2018 DNA Day Essay Contest: Full Essays

1st Place

 Diane Zhang
Fox Lane High School
Teacher: Ms. Stephanie Peborde
Location: Bedford, NY

Recent advancements in genetic technologies, specifically the ability for scientists to sequence the genome, have made analyzing DNA easier, faster, and more cost-effective. This in addition to the rising number of consumer companies that directly provide genetic testing through genotyping or sequencing of DNA samples from cheek swabs or blood has allowed genetic testing to be more accessible to the population. The services that these companies are offering are expanding to include reports about an individual’s ancestry, mutation status, and even risk for certain diseases. Therefore, genetic testing could substantially impact an individual’s health and lifestyle choices that are either meaningful or misguided based on interpretation of the results. Although genetic counselling is important in ensuring that individuals are well-informed about their genetic tests, counselling should not be required for all tests, as it limits the scope and accessibility of genetic testing that could be key for early disease detection.

Requiring medical professionals for genetic testing presents financial and practical issues. The added cost of a genetic counselor creates a financial burden that limits who goes through genetic testing, disproportionately harming those who can’t afford the cost. Also, an increase in genetic testing with no such growth in genetic counseling creates a situation in which an impractically large number of counselors are needed to meet the demands of consumers. Already, there is a several-month backlog of genetic counselors, meaning that seeking an alternative approach to test interpretation is more realistic than counseling (2).

In the case of breast cancer, involving a genetic counselor can deter women from taking part in genetic testing. When a cohort testing for the breast cancer susceptibility mutations of BRCA1/2 was mandated to go through genetic counseling, the rate of cancellation for genetic tests increased from 13.3% to 42.1% (5). The effect of requiring a genetic counselor was exacerbated for minority groups, as they had cancellation rates 30-40% higher than the normal population (5). The implications of this mandate are that fewer women are aware of their genetic predisposition to breast cancer and that there is a disparity between races and between socioeconomic classes in relation to receiving genetic testing.

Currently, one of the issues in regard to breast cancer is that less than 20% of women who have a history of breast/ovarian cancer get genetically tested (1). However, as genetic testing becomes more common, more of the population will get tested. Providing consumers with direct access to predictive genetic testing will further increase the number of individuals with breast cancer history who get tested. These genetic tests identify breast cancer predisposition by detecting heritable mutations of well-known oncogenes or tumor suppressor genes. Mutations in the BRCA1/2 genes are most commonly analyzed for breast cancer, as they contribute to up to 10% of breast and 15% of ovarian cancers (1).

Receiving genetic testing for breast cancer is crucial in predisposition or early detection and subsequent prevention or treatment. If an individual tests positive for a high risk of breast cancer, he/she can have a mastectomy to prevent the disease onset. In addition, individuals can reduce their risk through chemoprevention with selective estrogen receptor modulators (SERMs) or aromatase inhibitors, drugs that block the activity of hormone-receptor-positive breast cancer cells (3). Or, when a test reports that an individual has high risk, physicians can initiate a breast MRI scan, a mammography exam, and a clinical breast exam to track any signs of a breast tumor (3). Treating breast cancer at an earlier stage is associated with higher relative survival, because the cancer cells are less aggressive and have less time to metastasize (4). By maximizing the amount of people who get tested for breast cancer, or any disease in general, through direct access to genetic testing, more people will be able to determine disease risk and act accordingly.

Genetic counseling is valuable for effectively approaching a genetic test report, but mandating such counseling is impractical; rather, drawing criteria for receiving counseling in certain situations is more appropriate. Providing open access to genetic reports will broaden the scope of individuals who get tested, allowing for more early detections of and predispositions to diseases. As personalized genetics becomes increasingly integrated into society, people can become more aware of what lies in their own DNA that could be life-changing, or potentially, life-saving.

Citations/References:

Works Cited
(1) Childers, Christopher P., et al. “National Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer.” Journal of Clinical Oncology, vol. 35, no. 34, 2017, pp. 3800–3806., doi:10.1200/jco.2017.73.6314.
(2) Hughes, Kevin S. “Genetic Testing: What Problem Are We Trying to Solve?” Journal of Clinical Oncology, vol. 35, no. 34, 2017, pp. 3789–3791., doi:10.1200/jco.2017.74.7899.
(3) Lynch, Julie A., et al. “Genetic Tests to Identify Risk for Breast Cancer.” Seminars in Oncology Nursing, vol. 31, no. 2, 2015, pp. 100–107., doi:10.1016/j.soncn.2015.02.007.
(4) Saadatmand, Sepideh, et al. “Influence of Tumour Stage at Breast Cancer Detection on Survival in Modern Times: Population Based Study in 173 797 Patients.” Bmj, 2015, doi:10.1136/bmj.h4901.
(5) Whitworth, Pat, et al. “Impact of Payer Constraints on Access to Genetic Testing.” Journal of Oncology Practice, vol. 13, no. 1, 2017, doi:10.1200/jop.2016.013581.

2nd Place

Ilan Bocian
YULA-Boys
Teacher: Mrs. Vickie Bellomo
Location: Los Angeles, CA

From thirteen years (1990-2003) and three-billion dollars, to less than one day and a few-hundred dollars — this is the ease with which whole-genomic information can now be made available to the general public (Shendure et al., 2017). And yet, with the advent of direct-to-consumer genetic testing (DTC-GT) for disease-related genes, numerous risks present themselves regarding interpretation and application of genetic data by the consumer (Rockwell, 2017). Arguably, it is within a person’s rights to know his or her own genetic information. But as valuable as patient autonomy in health-care decision-making is, the key question concerns the manner in which such genetic information can be responsibly provided (Delaney and Christman, 2016). Without the counsel of a medical-genetic professional in both the ordering and interpretation of genetic data, the interpretive burden is shouldered by the consumer, who is untrained in this complex task (Rockwell, 2017). Raw genomic data, for example, commonly provided by DTC-GT companies, is of little utility to the consumer without the help of a trained professional who can evaluate the individual patient in the context of his or her personal medical and family history (ACMG Statement, 2015). Such companies have been rightfully criticized for the “ethical misstep” (Delaney and Christman, 2016) of failing to provide appropriate genetic counseling to their clients.

I wish to affirm my position that the involvement of a qualified medical-genetic professional should be required in the ordering and interpretation of all genetic testing, with the principal aim of individualizing a person’s risk assessment and his or her options for further management.

DTC-GT for genetic-disease susceptibility lacks qualifications that individualized genetic evaluation should ideally entail: (1) informed consent, comprehensively informing the client as to the indications – and limitations – of genetic testing and its potential outcomes, whether negative or positive (ACMG Statement, 2015); (2) proper testing methodology which, for example, includes gene coverage, the extent to which a given gene will be analyzed by the selected sequencing method (Uhlmann and Roberts, 2018); (3) medical history, which critically must include validation of the clinical diagnosis of the patient or family member for whom genetic testing is sought (Bird, 2015); (4) family history (ACMG Statement, 2015); (5) the correct interpretation of sequencing data (Badalato et al., 2017); and (6) guidance as to action that might be required in response to genetic analysis (Uhlmann and Roberts, 2018).

Alzheimer disease (AD) and breast cancer are examples par excellence of common conditions with genetic components that have potentially devastating consequences to patients and their families should the disease materialize — such concern fuels the incentive for a growing number of individuals to seek DTC-GT in efforts to understand the level of risk to themselves and their family members (Badalato et al., 2017).

AD, the most common cause of dementia in North America and Europe, manifests as severe deterioration of memory and cognition (Bird, 2015). Diagnosis of AD subtypes, which are genetically heterogeneous (multiple susceptibility genes have been identified) and which carry widely different prognostic implications, requires a neurologist’s skilled clinical assessment (Bird, 2015). Despite this complexity attending an AD diagnosis, detection of a single variant in the APOE e4 allele is advertised by a major DTC-GT company in its AD screen. As significant as the association of the APOE e4 is to late-onset familial AD, APOE genotyping lacks sensitivity and specificity, particularly in the asymptomatic individual (Bird, 2015). Thus, the usefulness of APOE testing in predicting development of AD in an asymptomatic individual is unsupported by credible data and thus can be dangerously misleading (Bird, 2015; Uhlmann and Roberts, 2018).

Breast cancer affects 12% of women in the American population. Harmful mutations in BRCA1/BRCA2 genes magnify the risk of developing breast cancer by six-fold (“BRCA Mutations: Cancer Risk and Genetic Testing”, 2018). A major DTC-GT company under-represents the risk of breast cancer by screening for only three out of 1,000 possible mutations in BRCA1/BRCA2, and omits screening for multiple other susceptibility genes such as PALB2 which, if a harmful mutation is present therein, can cause breast cancer in 33% of women by age 70 (Antoniou et al., 2014).

Panic or complacency are two potential extremes that can negatively impact the uncounseled user of DTC-GT services, to the detriment of the client and his or her family. Unfounded anxiety is emotionally deleterious and can lead to unnecessary medical testing. On the other hand, operating under false reassurance can increase disease risk. Only through counseling by qualified genetic professionals of clients seeking DTC-GT for genetic-disease susceptibility can these overarching risks be mitigated.

Citations/References:

ACMG Statement (2015). Direct-to-consumer genetic testing: a revised position statement of the American College of Medical Genetics and Genomics. Genet Med, advance online publication 17 December 2015. Retrieved from https://www.acmg.net/docs/ACMG%20Revised%20DTC%20Statement%20AOP%20Dec%202015.pdf

Antoniou, A.C., Casadei, S., Heikkinen, T. et al. (2014). Breast-cancer risk in families with mutations in PALB2. N Eng J Med, 371(6), 497-506.

Badalato, L., Kalokairinou, L., & Borry, P. (2017). Third-party interpretation of raw genetic data: an ethical exploration. Eur. J. Human Genetics, 25, 1189-1194.

Bird, T.D. (2015). Alzheimer Disease Overview. Gene Reviews [Internet]. Retrieved from
https://www.ncbi.nlm.nih.gov/books/NBK1161/

“BRCA Mutations: Cancer Risk and Genetic Testing”. (2018). National Cancer Institute. Retrieved from
https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet

Delaney, S.K., & Christman, M.F. (2016). Direct-to-consumer genetic testing: perspectives on its value in healthcare. Clinical Pharmacology and Therapeutics, 99(2), 146-148.

Rockwell, K.L. (2017). Direct-to-consumer medical testing in the era of value-based care. JAMA, 317(24), 2485-2486.

Shendure, J., Balasubramanian, S., Church, G.M., Gilbert, W., Rogers, J., Schloss, J., & Waterston, R. (2017). DNA sequencing at 40: past, present and future. Nature, 550, 345-353.

Uhlmann, W.R., & Roberts, J.S. (2018). Ethical issues in neurogenetics. Handbook of Clinical Neurology, 147, 23-35.

3rd Place

Nadia O’Hara
Pechersk School International
Teacher: Mrs. Audra Santos
Location: Kyiv, Ukraine

Today’s leading Direct-to-Consumer (DTC) genetic testing company “23andMe” has popularized predictive genetic tests sold directly to consumers. DTC genetic testing services decode customers’ DNA, and then inform them of their predisposition to certain monogenic or polygenic diseases by posting the results online. DTC genetic testing has raised many ethical and medical concerns. Without the assistance of a genetic counselor, customers may incorrectly interpret their results. Additionally, adverse results could psychologically distress consumers (Stewart et al., 2017). Customers’ privacy could also easily be violated if results are shared without the customer’s consent. Given these concerns, genetic information should only be provided to individuals by a qualified genetic counselor.

With DTC service, patients learn about their predispositions for genetic diseases without any psychological support. They may learn about an elevated risk of a disease that may never manifest itself, or may not become symptomatic for decades. Without counseling to fully understand data, customers are exposed to unnecessary stress that negatively affects their quality of life (Stewart et al., 2017). Huntington’s Disease (HD) provides an illustrative case. Huntington’s is an autosomal dominant monogenic disease in which a person has a 50% chance of inheriting the gene if a parent has the disease (Huntington’s Disease Youth Organization, 2018). Genetic testing can reveal whether someone inherited the gene that will cause the fatal disease to develop between the ages of 30 to 50 (Genetic and Rare Diseases Information Center, 2018). If the patient receives this horrible information without counseling, this could cause them unnecessary psychological trauma. According to the European Academies Science Advisory Council (EASAC), highly penetrant diseases, such as HD, should not be shown on DTC genetic testing reports as this information could cause serious psychological harm and suffering to patients (EASAC, 2012). In contrast, a counselor could deliver such information, while also immediately referring patients to medical and psychological support groups and services.

Without genetic counseling, customers often misinterpret their results by gaining either a false sense of security or developing unnecessary anxiety (Singleton et al., 2011). If the customer does not understand the data well, an “at risk” report could cause them to assume they are destined to get a certain disease. If the results show no genetic predispositions to disease, customers could mistakenly believe they are safe from genetic diseases because DTC genetic testing reports do not take into account environmental and behavioral factors (Ding and Pacifici, 2016). This leads to serious misinterpretations because the environment can stimulate the pathogenesis of many genetic diseases (Tripathy, Nanda and Sudharani, 2011). For example, air pollution can severely increase the risk of cardiovascular diseases (American Heart Association, 2017). Therefore, a person with a genetic predisposition to cardiovascular disease who lives in a clean environment could be less likely to develop the associated diseases than somebody who lives in a polluted city, yet has no genetic predispositions.

Although the Genetic Information Nondiscrimination Act (GINA) protects individuals who wish to pursue genetic testing from changes made to their insurance policies or employment status, the law is not comprehensive. GINA does not encompass life insurance, long-term care insurance, or disability insurance (Su, 2013). These loopholes allow insurance companies to exploit genetic data by refusing to cover certain people who are at risk of disease. Customers can also be tricked into sharing their genetic information. Studies have shown people tend to sign consent forms without reading all the legal jargon (Nelson et al., 2011). This means they sign without truly giving consent. The lack of laws governing the use of DNA or genetic information leaves patients vulnerable to discrimination.

Opponents of mandatory genetic counseling argue such counseling is unnecessary and expensive; however, the benefits of professional counseling are worth the cost. In fact, DTC genetic testing customers often seek counseling eventually, after having suffered without professional support. Another argument in favor of DTC genetic testing is that it empowers customers to get information so they can make informed decisions about their health (Su, 2013). However, the same information can be gained more safely through the services of a genetic counselor. Genetic counseling empowers patients more than DTC reports because the counseling helps customers accurately interpret their results and learn about more health care resources.

DTC genetic testing is a fast and cheap way to discover more about one’s DNA, but the absence of genetic counseling during the process is harmful to customers. While predictive genetic testing is a valuable tool, the information should be delivered to customers in a responsible way by a genetic counselor.

Citations/References:

23andme.com. (2018). DNA Genetic Testing & Analysis – 23andMe. Retrieved from http://23andme.com [Accessed 21 Jan. 2018].

American Heart Association. (2017). Air pollution and heart disease, stroke. Retrieved from https://www.heart.org/HEARTORG/Conditions/More/MyHeartandStrokeNews/Air-Pollution-and-Heart-Disease-Stroke_UCM_442923_Article.jsp [Accessed 2 Mar. 2018].

Ding, J., & Pacifici, E. (2016). A study on the regulatory oversight of direct-to-consumer genetic testing in USA. (p. 81). Health Informatics and Medical Systems. Retrieved from https://csce.ucmss.com/cr/books/2017/LFS/CSREA2017/HIM3702.pdf

EASAC. (2012). Direct-to-consumer genetic testing. (p. 9). Retrieved from http://www.easac.eu/fileadmin/PDF_s/reports_statements/Easac_12_DTCGT-Lay_Web.pdf

Genetic and Rare Diseases Information Center. (2018). Huntington disease. Retrieved 2 March 2018, from https://rarediseases.info.nih.gov/diseases/6677/huntington-disease

Genetics Home Reference. (2018). What is direct-to-consumer genetic testing?. Retrieved 2 March 2018, from at: https://ghr.nlm.nih.gov/primer/testing/directtoconsumer

Huntington’s Disease Youth Organization. (2018). Huntington’s Disease Youth Organization – Professionals – Having children. Retrieved 2 March 2018, from https://en.hdyo.org/pro/articles/45 [Accessed 21 Jan. 2018].

Nelson, T., Armstrong, L., Richer, J., Evans, J., Lauzon, J., McGillivray, B., Bruyère, H. and Dougan, S. (2011). CCMG Statement on Direct-to-Consumer Genetic Testing. (p. 4) Canadian College of Medical Geneticists. Retrieved from https://www.ccmg-ccgm.org/documents/Policies_etc/Pos_Statements/PosStmt_EPP_DTC_FINAL_20Jan2011.pdf [Accessed 21 Jan. 2018].

Singleton, A., Erby, L., Foisie, K. and Kaphingst, K. (2011). Informed Choice in Direct-to-Consumer Genetic Testing (DTCGT) Websites: A Content Analysis of Benefits, Risks, and Limitations. Journal of Genetic Counseling, 21(3): 433-439 Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3348288/ [Accessed 21 Jan. 2018].

Stewart, K., Wesselius, A., Schreurs, M., Schols, A. and Zeegers, M. (2017). Behavioural changes, sharing behaviour and psychological responses after receiving direct-to-consumer genetic test results: a systematic review and meta-analysis. Journal of Community Genetics, 9(1): 1-18. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/28664264

Su, P. (2013). Direct-to-Consumer Genetic Testing: A Comprehensive View. Yale Journal Of Biology And Medicine, 86(3), 359-365. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3767220/

Tripathy, K., Nanda, T. and Sudharani, O. (2011). The Influence of Environmental and Genetic Factors on Various Disorders and Diseases. Journal of Genetic Syndromes & Gene Therapy, 2(1). Retrieved from https://www.omicsonline.org/the-influence-of-environmental-and-genetic-factors-on-various-disorders-and-diseases-2157-7412.S11-001.php?aid=3593

Honorable Mentions

Blair Atherton
Home School
Avon, IL
Teacher: Mrs. Tina Atherton

Since its conception, direct-to-consumer genetic testing (DTCGT) has been the subject of debate in the scientific community. DTCGT bypasses traditional genetic counseling by sending consumers their own testing kit and providing their results via the internet, most of the time without any genetic counseling provided. Many tests are single nucleotide polymorphism-based (SNP), which provide consumers with information about SNPs that are associated with a predisposition for multifactorial diseases such as breast cancer, obesity, and depression (Carere et al. 2015). These enable consumers to receive genetic testing without having to go to a genetic professional, providing a low cost option to determine increased risk for genetic mutations. However, the American Society of Human Genetics’ (ASHG) position is that without traditional genetic counseling from a qualified genetic counselor or medical geneticist, consumers may have difficulty determining which tests to purchase and may not interpret test results appropriately (Nelson, 2018). I believe that the answer to this ethical dilemma is not an either/or solution but a combination of the two. Consumers should be allowed to use DTCGT as long as licensed genetic counselors are provided throughout the testing process at the very least by telephone, video conferencing, and/or live chat.

In a traditional genetic counseling scenario, counselor and patient meet face-to-face. This method is difficult for DTCGT companies due to distance between company and consumer. In order for the two sides to compromise, the traditional method of genetic counseling must be modified to meet consumer needs, the most important of which are to maintain low cost testing and to inform the consumer of which tests to purchase and their results (Kne et al., 2016). One company that offers post-test genetic counseling by a licensed genetic counselor specific to breast cancer is Veritas. At the low cost of $199 it is the same price as the health and ancestry test from 23andMe, a company that does not provide any counseling by licensed genetic counselors (Veritas, n.d.; 23andme, n.d.). Despite companies having to hire licensed genetic counselors, they can keep their costs low by counseling the consumer over telephone, video conference, and/or live chat. Though Veritas and other companies such as Gene by Gene and Sure Genomics have set their standards higher than most other DTCGT companies, they can do better by also offering pre-test counseling. This will eliminate any assumptions on the part of the company that consumers already know what tests to purchase when seeking their services.

Companies can further increase their post-test counseling standards by offering counseling not only for test results but also for preventative treatments such as frequent mammograms, surgery, preventative medicines, and lifestyle changes such as avoiding carcinogens and eating habits (National Cancer Institute, 2017). Carere et al’s (2015) study showed that individuals testing for breast cancer lost interest in their results and chose not to seek preventative treatment if they were not offered counseling within six months of receiving results; this study clearly demonstrates the necessity of timely genetic counseling. In the case of consumers at risk for breast cancer, lack of action could be costly, both financially and medically. As a solution to this problem DTCGT companies could make licensed genetic counseling readily available through telephone, video conference, and/or live chats prior to ordering tests and receiving results. Immediate counseling would have the greatest effect on consumers’ pursuit of preventative measures and comprehension of results.

Direct to consumer genetic testing allows individuals to discover their genetic predispositions cheaply and quickly. However, based on studies of DTCGT consumers seeking breast cancer testing and the ASHG’s position, genetic professionals are needed to inform consumers of appropriate testing, risks, and preventative treatments. Without genetic counseling, patients are more likely to engage in unnecessary testing, misunderstand results, disregard results, and not take the necessary steps to prevent developing diseases like breast cancer. Rather than adhering to the classic face to face model of genetic counseling, companies can raise their product standards to meet consumer needs, by modernizing genetic counseling methods to include multiple pathways of delivery such as by telephone, video conference, and/or live chat. This would allow for more targeted testing and increased consumer understanding of test results as well as preventative measures while keeping product costs low and service delivery timely.

Citations/References:

Carere, D. A., Vanderweele, T., Moreno, T. A., Mountain, J. L., Roberts, J. S., Kraft, P., Green,
R. C. (2015). The impact of direct-to-consumer personal genomic testing on perceived
risk of breast, prostate, colorectal, and lung cancer: Findings from the PGen study. BMC Medical Genomics, 8(1). doi: 10.1186/s12920-015-0140-y
Kne, A., Zierhut, H., Baldinger, S., Swenson, K. K., Mink, P., Veach, P. M., Tsai, M. T. (2016).
Why is cancer genetic counseling underutilized by women identified as at risk for
hereditary breast cancer? Patient perceptions of barriers following a referral letter. Journal of Genetic Counseling, 26(4), 697-715. doi: 10.1007/s10897-016-0040-0
National Cancer Institute. (2017, August 18). Breast Cancer Prevention (PDQ) – Patient Version.
Retrieved from https://www.cancer.gov/types/breast/patient/breast-prevention-pdq
Nelson, D. L., (2018, January 08). Public comment submitted to the Food and Drug
Administration (FDA) on medical devices; Exemptions from premarket notification:
Class II devices; Request for comments. Retrieved from: http://wptest.ashg.org/policy/pdf/ASHG_comments%20on%20FDA-2017-N-1129_010818.pdf
23andMe (n.d.) Our health and ancestry DNA service – 23andMe. Retrieved from
https://www.23andme.com/dna-health-ancestry/
Veritas (n.d.). Checkout|Operations. Retrieved from
https://secure.veritasgenetics.com/checkout/32953

Jaeho Hwang
Seoul International School
Seoul, South Korea
Teacher: Mr. Chris Koester

Since the completion of the Human Genome Project in 2003, the field of genetics has advanced from theory to practical application. One of the more exciting and attractive applications is the capability to predict the risk of disease development. Today, with direct-to-consumer (DTC) genetic testing, people are able to do the testing by themselves at a cost of just a few hundred dollars.

The market for genetic testing follows traditional trend, moving towards becoming more convenient, affordable and precise. With growing market size and interest from the public, the future for both academic and commercial fields of genetics looks bright. However, there are issues concerning liability and accuracy of DTC kits and related regulations that ultimately ask the question whether DTC can be an alternative option for conventional testing with genetic counselors.

Currently, DTC genetic testing kit cannot be a substitute for genetic counseling. In terms of testing method, DTC testing may not be so different from testing with professionals. Both methods require sample DNA from the subject to look for specific genes or mutations known to increase the risk of certain genetic diseases. Interpretation of the results and follow up guidance are what make the difference. For instance, presence of HLA-DQ2 and/or HLA-DQ8 gene is necessary for development of Celiac Disease (Singh et al. 2015). Their absence eliminates future risk of developing the disease, while their presence increases the risk. However, approximately one third of Caucasian individuals carry either HLA-DQ2 and/or HLA-DQ8 gene (Singh et al. 2015), so positive testing result for these genes does not necessarily indicate high risk, and does not warrant big concerns.

On the other hand, females with mutated BRCA1 or BRCA2 gene have 36~85% chance of developing breast cancer, and should be monitored by a medical professional on regular basis (Evans et al. 2001). Considering the fact that only 5~10% of diagnosed breast or ovaries cancer are caused by mutation on BRCA1 or BRCA2 gene (Evans et al. 2001), absence of mutations on these genes doesn’t mean that the subject is free from the risk of developing breast or ovaries cancer later on in her life. All genetic testing for disorder will show how certain gene’s presence or absence will increase or decrease risks for certain diseases, but how to accept these results in interpreting the severity of the risk depends on the type of disease. Genetic counseling can provide more substantial information on the risk of developing a genetic disease, accounting for other diagnostic factors such as environment, family history, symptoms and characteristics of individual. Genetic counseling can also provide medical advice, helping the patients to setup proper treatment and behavior control to lower the risk (Marietta et al. 2009). Such a comprehensive service is something DTC cannot offer to a customer.

But we must not forget that the purpose of DTC genetic testing is not exactly to replace conventional genetic testing done with professionals. In fact, it is quite the contrary; DTC genetic testing promotes professional genetic counseling. Not only do the companies with DTC kit production openly recommend discussing the test result with health professionals while offering physicians’ help of their own (Marietta et al. 2009), DTC testing also opens a gateway to people whom otherwise wouldn’t have taken the test for privacy issues and fear for public discrimination (Marietta et al. 2009). Due to psychological fear, expensive cost and necessary time commitment, people without severe family history of genetic disorder are not easily motivated to voluntarily find a clinic for genetic counseling. DTC genetic testing makes it more affordable and accessible for people to be interested in genetic testing, and provides preventive measures against genetic diseases in scientific ways.

DTC genetic testing and genetic counseling are in a symbiotic relationship rather than competition. The opportunity to collect potentially massive amount of data is an additional benefit of promoting DTC genetic testing. DTC offers faster way to gather abundance of data compared to the conventional way. Massive DNA database and feedbacks from DTC users will promote resourceful academic research, help lowering uncertainty level of commercial testing kit, and ultimately become the next stepping stone for the field of genetics. We the mankind cannot stop what is coming to us, but we can prepare for it. DTC is already a part of our lives. Now it’s time for us to come up with better ways to regulate and establish solid cooperation with health professionals for safe and effective use of the new technology.

Citations/References:

Reference
“Direct-to-Consumer Genetic Testing: What to Know.” Cancer.Net, U.S. National Library of the Medicine, 8 Dec. 2017, www.cancer.net/blog/2016-10/direct-consumer-genetic-testing-what-know.
Evans JP, Skrzynia C, Burke W. The complexities of predictive genetic testing. BMJ : British Medical Journal. 2001;322(7293):1052-1056. (Evans et al. 2001)
Marietta, Cynthia, and Amy L. McGuire. “Direct-to-Consumer Genetic Testing: Is It The Practice of Medicine?” The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 37.2 (2009): 369–374. PMC. Web. 28 Feb. 2018. (Marietta et al. 2009)
Pray, Leslie. “DTC Genetic Testing: 23andme, DNA Direct and Genelex.” Nature News, Nature Publishing Group, 2008, www.nature.com/scitable/topicpage/dtc-genetic-testing-23andme-dna-direct-and-674.
Singh P, Arora S, Lal S, Strand TA, Makharia GK. Risk of Celiac Disease in the First- and Second-Degree Relatives of Patients With Celiac Disease: A Systematic Review and Meta-Analysis. Am J Gastroenterol. 2015 Nov. 110 (11):1539-48. (Singh et al. 2015)

“Amy” Seunghyun Kim
Korea International School, Jeju
Seogwipo-si, South Korea
Teacher: Mr. Michael Palmer

In 2016, actress Angelina Jolie—who lost her mother, grandmother, and aunt to cancer—announced that she had a preventative mastectomy after genetic testing(GT) revealed the presence of a mutation on the BRCA1 gene, mutations that are highly penetrant with ~57% probability of developing breast cancer(Chen and Parmigian 1329). Her public journey inspired widespread discussion about breast cancer prevention and role of GT. Furthermore, that year 23andMe, one of the biggest direct-to-consumer(DTC) GT companies, was again permitted to test for diseases after years of working to meet stringent FDA regulations. With the new and regulated 23andMe, many are curious whether its new, limited services will help prevent or improve disease treatment. While critics argue that only clinical professionals should provide GT, DTC has value, though should be limited.

Certain criteria determine which diseases DTC can be useful for. First, DTC must have analytical validity: the testing is reliable, consistent, and based on sound lab practices. As far as GT research goes, there have been no reported problems regarding this issue with DTC. Second, testing a genetic marker must provide results with clinical validity: results can help determine whether a disorder is present or will develop. Genetic markers with high penetration contribute considerably to a test’s clinical validity. Finally, there is utility—whether knowledge of the gene or genetic marker will positively affect the patient. Is there a cure? Can onset of symptoms be delayed? While analytic validity and clinical validity must exist for GT to be valuable, utility is an ethical question that should be answered by individuals.
Considering these criteria, breast cancer is one disorder for which DTC can be of value, testing several well-known genetic markers as BRCA1, BRCA2. These tumor suppressor genes help repair damaged DNA, however, when they have certain mutations, abnormal or no protein production will take place, hindering proper DNA repair and potentially resulting in cancer. Women with the BRCA1 gene mutation have a 60~80% chance of developing breast cancer, and BRCA2 germ-line mutations are seen in 35% of families with early-onset breast cancer in women(Mehrgou and Akouchekian 30: 369). Testing for these genetic markers is of public import since breast cancer is the most common cancer diagnosed among women in the United States (Siegel et al. 7-30). Testing of BRCA1, BRCA2 mutations have high clinical utility because this prevalent cancer can be treated or prevented with hormone therapy, preventative medication, surgeries such as mastectomy, and frequent scanning can detect it in more treatable stages.

Critics of DTC are skeptical of the clinical utility and marketing ‘tactics’ employed by DTC companies. However, studies suggest that health professionals find DTC useful. Among 133 genetic professionals surveyed, 52.3% deemed DTC to be “clinically useful,” and specifically said BRCA1/2 testing was clinically useful in 85.7% of cases(Giovanni et al. 817–819). Furthermore, critics worry that patients are incapable of interpreting their genetic results correctly or are psychologically unprepared without consultation. Contrary to such apprehensions, in an assessment of Multiplex Initiative participants who underwent GT, 80% of participants correctly recalled their results and recognized that disease causes were multifactorial(Roberts and Ostergren 182–200). In a longitudinal study of 2,037 DTC users, there were no significant differences in anxiety symptoms between baseline and follow-up, and 90.3% did not show significant test-related distress at the follow-up(Bloss et al.524-534). Critics believe that DTC marketing often exaggerates their predictive powers and misguide consumers. Nevertheless, it is a question of policy rather than usefulness of DTC. For example, due to the FDA’s regulations, 23andMe may only test for the presence of genetic markers related to a few and approved diseases, and cannot provide risk assessments or detailed interpretation. 23andMe also now informs consumers about the pitfalls, ambiguities and indeterminacy of GT, and strongly recommends further consultation with healthcare professionals to discuss other factors that can affect one’s probability of developing a disorder(23andMe.com).

Not all GT results in drastic measures, like Jolie’s mastectomy, or extreme psychological stress that critics often argue. I do not advocate that DTC be used for all diseases—diabetes requires sophisticated interpretation of its complex combination of genetic and non-genetic factors(Genetics Home Reference). However, DTC should be available for genetic mutations commonly agreed to have high penetration and clinical validity, such as BRCA1/2 mutations. DTC makes GT affordable, contributes to wider and accessible genetic services, and allows the consumers to make informed health decisions—eventually making GT dependent on the prerogative of individuals rather than the progress of disorder.

Citations/References:

1. Chen S and Parmigiani G. “Meta-Analysis of BRCA1 and BRCA2 Penetrance.” J Clin Oncol. 2007 Apr 10; 25(11): 1329–1333.
2. Mehrgou Amir, Akouchekian Mansoureh. “The importance of BRCA1 and BRCA2 genes mutations in breast cancer development.” Med J Islam Repub Iran. 2016; 30: 369.
3. Siegel RL, Miller KD, Jemal A, Cancer statistics, 2016. CA Cancer J Clin. 2016 Jan-Feb; 66(1):7-30.
4. Giovanni MA, Fickie MR, Lehmann LS et al. Health-Care Referrals from Direct-to-Consumer Genetic Testing. Genet Test Mol Biomarkers. 2010 Dec; 14(6): 817–819.
5. Roberts JS, Ostergren J. Direct-to-Consumer Genetic Testing and Personal Genomics Services: A Review of Recent Empirical Studies. Curr Genet Med Rep. 2013 Sep; 1(3): 182–200.
6. Kaufman DJ, Bollinger JM, Dvoskin RL, Scott JA. Risky business: risk perception and the use of medical services among customers of DTC personal genetic testing. J Genet Couns. 2012;21:413–422
7. Bloss CS, Schork NJ, Topol EJ. Effect of direct-to-consumer genomewide profiling to assess disease risk. N Engl J Med. 2011;364:524–534.
8. 23andMe-How It Works. 23andMe, 2018, https://www.23andme.com/en-int/dna-ancestry/. Accessed 21 February 2018.
9. Health conditions-type 2 diabetes-Genetic changes. Genetics Home Reference. U.S. National Library of Medicine, February 20, 2018, https://ghr.nlm.nih.gov/condition/type-2-diabetes#genes. Accessed 21 February 2018.

Kenton Kryger
Battle Creek Area Math & Science Center
Battle Creek, MI
Teacher: Mrs. Lindsey Keller

Once an expensive and relatively uncommon procedure performed only in the
laboratories of specialized health clinics, genetic testing is rapidly growing in popularity as
direct-to-consumer (DTC) genetic testing companies‒including 23andMe, FamilyTree DNA, and
Ancestry.com‒have brought more affordable options to the table. Genetic testing is generally
used to predict the likelihood of developing or passing on a genetic disease, though it can also be
used to identify physical traits and establish biological relationships between people. Predictive
genetic testing has a promising future in the sector of personalized medicine, demonstrated by
the recent approval by the U.S. Food & Drug Administration (FDA) for the marketing of
23andMe Genetic Health Risk tests for 10 diseases and conditions (Office of the Commissioner,
2017). Although this testing is proving accurate enough to meet FDA standards, the FDA does
not recommend using the results for diagnosis or to inform treatment decisions. Instead, patients
seeking genetic disease risk assessment are advised to consult a medical professional as they are
able to perform further and more personalized testing. For other DTC genetic tests, studies have
shown that the validity and utility of the results are questionable due to their lack of
thoroughness (Abul-Husn, 2014). This conclusion, the disclaimers on DTC genetic testing
reports, and the FDA’s recommendation to consult health care professionals with any questions
or concerns with the approved 23andMe test all support a similar notion: predictive gene testing
offered by DTC companies does not supersede traditional methods of healthcare and is not
sufficient enough evidence on its own to merit serious action such as preventative surgery.

One of the most prevalent sources of opposition to DTC testing is the general absence of
a genetic counselor to inform patients and family members of the benefits and potential harms of
learning about disease risk. This is a legitimate concern for both the DTC and clinical settings as
genetic counseling is a major factor for promoting risk-reducing behavior in patients at risk of
developing a genetic disease. On its own, genetic risk assessment has little or no impact on
patient behavior, particularly risk-increasing habits such as smoking, drinking, poor nutrition,
and lack of exercise. A study examining the psychosocial, behavioral, and health outcomes of
DTC personal genomic testing for patients checking for the likelihood of developing breast,
prostate, or colorectal cancer(s) concluded that there is not a statistically significant change in
risk-reducing behavior when patients are subjected solely to risk appraisal (Barton, 2017).

Another study found that communicating the risk of genetic disease (through genetic testing) for
patients predicted to develop breast, ovarian, and colorectal cancer(s) resulted in a slight increase
of using clinical means‒such as screening or prophylactic surgery‒but no increase in behavioral
changes (Hollands, 2016). However, when testing is paired with coping appraisal (i.e. genetic
counseling), studies have found that there is an increase in risk-reducing behavior (Sheeran,
2014). Without genetic counseling, genetic testing does not have the intended effect of
preventing the development of genetic diseases.

While including a medical professional in the process of all genetic testing would
increase the chance of patients taking the appropriate next steps, it would inevitably increase the
cost of DTC genetic testing. To enforce the involvement of a medical professional, responsibility
would have to be placed on either the patient or the DTC genetic testing company to pay the
medical professional, which would ultimately be reflected in the patient’s bill. This increased
cost may be worth it to individuals with elevated potential for genetic diseases, but it is most
certainly not worth it to the majority of patients that do not show signs of developing any genetic
diseases. Requiring every genetic test to be tied with a medical professional increases the cost for
all patients. Allowing patients to make choices at their own discretion is more intelligent and
realistic.

At this point in time, it is neither practical nor advantageous to require a medical
professional for all genetic testing, DTC genetic testing in particular. The costs much outweigh
the benefits, especially when considering that patients with positive results from DTC testing are
already advised to consult a medical professional for further steps. Thorough and heavily
regulated genetic testing within a health clinic staffed by medical professionals is a circumstance
in which the required involvement of a medical professional is plausible and reasonable. Patients
in these facilities have already been identified with potential risk of genetic disease and will
likely require further treatment, making it advantageous to have a genetic counselor tied with
each test.

Citations/References:

Abul-Husn, N. S., Obeng, A. O., Sanderson, S. C., Gottesma, O., & Scott, S. A. (2014).
Implementation and utilization of genetic testing in personalized medicine.
Pharmacogenomics and Personalized Medicine, 227-240. Retrieved November 17, 2017,
from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157398/.

Barton, M. K. (2017). Health behaviors not significantly changed by direct-to-consumer genetic
testing. CA: A Cancer Journal for Clinicians, 67(3), 175-176. doi:10.3322/caac.21368
Hollands, G. J., French, D. P., Griffin, S. J., Prevost, A. T., Sutton, S., King, S., & Marteau, T.
M. (2016).

The impact of communicating genetic risks of disease on risk-reducing health behaviour:
systematic review with meta-analysis. BMJ. Retrieved November 17, 2017, from
http://www.bmj.com/content/352/bmj.i1102.full.

Office of the Commissioner. (2017, April 07). FDA allows marketing of first direct-to-consumer
tests that provide genetic risk information for certain conditions. Retrieved December 13,
2017, from https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm551185.htm

Sheeran, P., Harris, P. R., & Epton, T. (2014). Does heightening risk appraisals change people’s
intentions and behavior? A meta-analysis of experimental studies. Psychological Bulletin,
140(2), 511-543. doi:10.1037/a0033065

Cindy Li
Smithtown High School East
St. James, NY
Teacher: Ms. Maria Zeitlin

Every person’s DNA is unique, making each and every one of us something special. With the rise in the accessibility of genetic testing and direct-to-consumer genetic testing, more people are looking at their unique code. This direct-to-consumer genetic testing allows people to send in a DNA sample from their homes and learn new things about themselves, from ancestry to even genetic predispositions to diseases. Despite the growing popularity of these genetic tools, I believe all screenings for diseases should involve a medical professional, such as a doctor or genetic counselor.

Facing a serious diagnosis, like breast cancer, can be stressful and dealing with it alone can be challenging. Distress from diagnosis can be common, and anxiety can worsen symptoms and the outcome of treatment (Ng, et al. 2017). In fact, stress during diagnosis of breast cancer can be a predictor of greater physical symptoms through the following year (Harris, et al. 2017). Even undergoing just the genetic test can be stressful. One study looked at distress levels of women after being genetically tested for BRCA1/2, genes that produce tumor suppressor proteins and whose mutations can increase the risk of breast and ovarian cancer. and it was found that both carriers and non-carriers of the mutation showed an increase in their depression and anxiety levels in the follow ups 1-5 years later (Oostrom, et al. 2003). Genetic testing for breast cancer can inform patients whether he or she has mutations in genes like BRCA1 and BRCA2, which can increase the likelihood of a patient developing breast cancer. However, results from a direct-to-consumer company may not provide much more information beyond whether the mutations are present or not. They may not inform concerned patients that it is estimated that only about 5.3% of breast cancer cases in patients younger than 40 years of age were due to a BRCA1 mutation (Honrado, et al. 2005). A doctor or genetic counselor can not only ease the anxiety, having much experience in this area dealing with patients, but can also better interpret results for and guide patients onto the right path toward treatment or monitoring should BRCA1/2 or other gene mutations be found.

Beyond easing patients’ fears over the results of a genetic test, medical professionals can also add more context to test results than an individual can find on his or her own. If a genetic predisposition tests positive, doctors can better inform patients of their prospects, reminding patients that the test is not predicting a definite cancer diagnosis, and offering the best treatment options rather than letting patients preemptively make medical decisions they may not need and later come to regret. In fact, in 2013, the Food and Drug Administration (FDA) ordered direct-to-consumer genetic testing companies to cease marketing of their tests because of the risk of consumers undergoing unnecessary health procedures (Convolo, et al. 2015). In case of a negative result, again doctors can remind patients that not having a mutation does not make them invincible to breast cancer. In fact, in a study of families with breast cancer, though BRCA1 and BRCA2 were linked to disease in a majority of the families studied, 16% were still linked to neither gene (Ford, et al. 1998).

Beyond the benefits of having a medical professional, downsides exist with direct-to-consumer testing itself, namely privacy issues. With medical professionals, a patient confidentiality agreement exists, which protects the patient’s medical history. Direct-to-consumer companies, however, are not legally bound to keep information, like those of a genetic predisposition to breast cancer, private. Laws help regulate what happens to results of genetic testing, but these DTC companies make it more likely that genome data will be made available in environments, such as the Internet, where there is not as much regulation and where almost anyone can access it (Naveed, et al. 2015).

With the rising trend of DTC genetic testing, there has been increasing controversies towards the costs and benefits of utilizing such resources. Though this testing does increase accessibility to tools that can help reveal risks of diseases, like breast cancer, I believe that genetic testing should continue to be done with a medical professional, given the nuances in disease diagnosis and privacy issues that are more likely to arise with DTC companies. Each day brings us closer to new discoveries and each new discovery only grows our curiosity. The increasing popularity of DTC testing only reflects our need to know more about the way we are built by nature and about who we are.

Citations/References:

Convolo, Loredana., et al. “Internet-based Direct-to-Consumer Genetic Testing: A Systematic Review.”
Journal of Medical Internet Research 17 (2015).

Ford, D., et al. “Genetic Heterogeneity and Penetrance Analysis of the BRCA1 and BRCA2 Genes in Breast
Cancer Families.” The American Society of Human Genetics 62 (1998): 676-689.

Harris, Lauren N., et al. “Chronic and episodic stress predict physical symptom bother following breast
cancer diagnosis.” Journal of Behavioral Medicine 40 (2017): 875-885.

Honrado, Emiliano., et al. “The molecular pathology of hereditary breast cancer: genetic testing and
therapeutic implications.” Modern Pathology 18 (2005): 1305-1320.

Naveed, Muhammad., et al. “Privacy in the Genomic Era.” ACM Computing Surveys 48 (2015): 1-29.

Ng, Chong Guan., et al. “Perceived distress and its association with depression and anxiety in breast
cancer patients.” Plos One 12 (2017): 1-12.

Oostrom, Iris van., et al. “Long-Term Psychological Impact of Carrying a BRCA1/2 Mutation and
Prophylactic Surgery: A 5Year Follow-Up Study.” Journal of Clinical Oncology 10 (2003).

Manali Nayak
Dr. Ninad Sheode’s Physics Coaching Class
Pune, India
Teacher: Dr. Ninad Sheode

Extensive progress in the field of genetics, notably the completion of the Human Genome Project, has provided new insights to the early prediction and prevention of genetic disorders. Genetic literacy, and consequently, the inclination towards direct-to-consumer genetic testing (DTC-GT) is on the rise in advanced countries, and is also catching up in developing nations like India. People have become proactive in managing their health and lifestyle choices by attempting to understand basic principles of heredity, medical reports and their implications.

However, the American Society of Human Genetics (2007), and the American College of Medical Genetics (2015), have pronounced words of caution regarding DTC-GT. Self-interpretation and internet-based knowledge can be facile, leading to misunderstandings in the absence of professional guidance. Companies may not provide consumers with underlying information such as the clinical validity and utility of the tests they opt for, and the type of test that would appropriately address their concerns about a particular disorder (McCabe & McCabe, 2004). Home-use test kits such as blood pressure monitors or glucometers provide clear results which are easily understood by everyone, since results are merely to be compared with standardized values. Predispositional genetic tests, however, have a grey area, since there is no sharp demarcation to decide whether a person may develop the disease or not. In such tests, only the chance or risk of disease may be predicted. The uncertainty of whether the disease will develop for sure, when symptoms may show if so, and to what degree an illness may affect that particular individual prevails. These reports can result in emotional turmoil, anxiety, guilt for the possibility of having passed on the gene to one’s children, or perhaps, survivor guilt, if a person has reduced risk of a disorder which most family members have suffered from. This may lead to unforeseen decisions such as preventive surgery, or other medical procedures, to which a medical professional may have been able to provide a more feasible solution.

In defense of the proposed argument, DTC-GT for coronary artery disease (CAD), would be taken as an example. CAD is one of the leading causes of death worldwide. The occurrence of CAD is largely influenced by genetic factors, and is estimated to have a heritability of 40%-60% (McPherson & Tybjaerg-Hansen, 2016), Indians being particularly susceptible with strong familial predisposition (Shanker et al., 2015). According to recently conducted genome-wide association studies (GWAS), to a large extent, the genetic susceptibility of CAD is determined by common SNPs (single nucleotide polymorphisms), with variants on chromosome 9p21.3 contributing significantly to the risk of disease (Nikpay et al., 2015; Schunkert et al., 2008).

As symptoms of CAD such as hypertension, diabetes, dyslipidemia, etc. may not manifest themselves early-on, many turn to predispositional genetic testing to know of their risk. With DTC-GT, false reassurances can be just as disastrous as the alarm caused by the prediction of high risk. If for instance, one were indicated to have a very low relative risk of developing CAD,the person may naively believe that he/she has absolutely no reason to anticipate the onset of disease. According to the INTERHEART study, protective lifestyle habits such as leisure time physical activity, and regular intake of a balanced diet is significantly lower in south Asians than the western population (Krishnan, 2012). Such a test report may further mislead a person to think that it is fine to deter from leading a healthy lifestyle; and that smoking, an uncontrolled diet and lack of exercise would not pose any problem since CAD is not part of his/her genetic make. Consumers would not realize that the collective effect of genetic, environmental and age related factors determine the development of CAD (Dai et al., 2016), along with the individual’s personal and familial medical history. While GWAS is providing promising leads in the diagnosis of CAD, clinicians, aware of the gaps in evidence of genetic testing, can use it in conjunction with other established methods of diagnosis like standard algorithms such as the Framingham risk score for accurate assessment (Sasidhar, et al., 2014).

Practitioners at the Sanjay Gandhi Postgraduate Institute of Medical Sciences (Lucknow) and Tata Memorial Hospital (Mumbai), opine that clinicians, too, must monitor the developments in the field of DTC-GT in order to safeguard consumers from their potential harms (Phadke, 2010; Sarin, 2015). The rapid advancements in DTC-GT will prove itself to be a powerful tool in early diagnosis of predispositional and presymptomatic diseases; but only under professional guidance will the consumer be able to avail of its benefits effectively.

Citations/References:

American College of Medical Genetics Board of Directors. (2015). Direct-to-consumer genetic testing: a revised position statement of the American College of Medical Genetics and Genomics. Genetics in Medicine, 18, 207-208. Retrieved from http://doi.org/10.1038/gim.2015.190

Dai, X., Wiernek, S., Evans, J., & Runge, M. (2016). Genetics of coronary artery disease and myocardial infarction. World Journal of Cardiology, 8(1), 1-23. Retrieved from http://doi.org/10.4330/wjc.v8.i1.1

Hudson, K., Javitt, G., Burke, W., Byers, P. & ASHG Social Issues Committee. (2007). ASHG Statement on Direct-to-Consumer Genetic Testing in the United States. American Journal of Human Genetics, 81(3), 635-637. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1950839/

Krishnan, M. N. (2012). Coronary heart disease and risk factors in India – On the brink of an epidemic? Indian Heart Journal, 64(4), 364-367. Retrieved from http://doi.org/10.1016/j.ihj.2012.07.001

McCabe, E. R. B., & McCabe, L. L. (2004). Direct-to-consumer genetic testing: Access and marketing. Genetics in Medicine 6, 58-59. Retrieved from https://www.nature.com/articles/gim20048

McPherson, R., & Tybjaerg-Hansen, A. (2016). Genetics of Coronary Artery Disease. Circulation Research, 118: 564-578. Retrieved from http://circres.ahajournals.org/content/circresaha/118/4/564.full.pdf

Nikpay, M., Goel, A., Won, H. H., Hall, L. M., Willenborg, C., Kanoni, S.,……& Farrall, M. (2015). A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. Nature Genetics, 47(10), 1121-1130. Retrieved from https://www.nature.com/articles/ng.3396

Phadke, S. (2010). Genetic Testing and Clinicians….and Patients. Newsletter of Genetics Chapter of Indian academy of Pediatrics, 3(4), 2-3. Retrieved from http://iamg.in/2010/Genetic%20Clinics%20Oct-Dec%202010.pdf#page=3

Sarin, R., (2015). Ethics and clinical utility of direct-to-consumer genetic tests. Journal of Cancer Research and Therapeutics, 11(1), 1-2. Retrieved from http://www.cancerjournal.net/article.asp?issn=0973-1482;year=2015;volume=11;issue=1;spage=1;epage=2;aulast=Sarin

Sasidhar, M. V., Reddy, S., Naik, A., & Naik, S. (2014). Genetics of coronary artery disease – A clinician’s perspective. Indian Heart Journal, 66(6), 663-671. Retrieved from http://doi.org/10.1016/j.ihj.2014.12.008

Schunkert, H., Götz, A., Braund, P., McGinnis, R., Tregouet, D. A., Mangino, M.,…..& Samani, N. J. (2008). Repeated replication and a prospective meta analysis of the association between chromosome 9p21.3 and coronary artery disease. Circulation, 117(13), 1675-1684. Retrieved from http://circ.ahajournals.org/content/117/13/1675

Shanker, J., Arindam, M., & Kakkar, V. (2015). Genetic epidemiology of coronary artery disease: an Asian Indian perspective. Journal of Genetics, 94(3), 539-549. Retrieved from http://www.ias.ac.in/article/fulltext/jgen/094/03/0539-0549

Fiona Oh
Homestead High School
Cupertino, CA
Teacher: Mrs. Jessica Wakefield

Today, genetic tests are mostly clinical laboratory-developed tests used for the diagnosis of several conditions, but commercial direct-to-consumer (DTC) ancestry tests like 23andme have recently become very popular. As more commercial DNA tests are being sold across the United States, the implications and faults of these DTC tests are coming to light. One main concern is the absence of a medical professional alongside consumers. In clinical genetic tests, patients often work with professionals who facilitate the testing process and provide support, but DTC tests go straight to a lab from the consumer, without the consultation of professionals, and are more informal than clinical tests. Since genetic testing can be benefitted by the presence of a medical professional who counsels patients as well as interprets and verifies results, they should be required for both clinical and DTC genetics testing.

One of the most important roles that a genetics professional can play is being a counselor for patients or consumers. As seeing the results for a genetic test can be scary for patients — even with a trivial DTC test, the results have the potential to discover something unfavorable — professionals can console patients and provide support in difficult situations. “Our patients are given a pretty hefty diagnosis — it’s not an easy pill to swallow. We’re here for them. We’re not just testing, giving a result and walking away,” said Catherine Marcum, a genetics expert at CHI (Fite). DTC tests like 23andme should provide counseling services, especially because some companies test for genes linked to ten health conditions (Boddy). Although supporters of DTC testing claim that the testing helps “empower consumers to take responsibility for their health and improve the quality of their lives,” (Roberts et al.) they fail to consider the psychological effects that a DTC test could bring upon the consumers, especially if they discover their probability for developing a condition with no cure or prevention. One such condition is late-onset Alzheimer’s, a neurodegenerative disease associated with loss of memory and other mental functions. At the moment, DTC genetic test distributing companies present few options for support if a consumer tests positive for Alzheimer’s or any other significant condition (Roberts et al). For this reason, genetic health professionals recommend to make genetic counseling a requirement that DTC genetic testing companies provide (Roberts et al.).

Professionals can also help to interpret and verify the results of a genetic test. Thanks to the advancements made in genetics, labs can now check for mutations in multiple genes that could point to complicated and serious diseases. The complexity of the current type of testing can make it difficult for anyone with little knowledge in genetics to interpret the results. If consumers choose to purchase the 23andme ancestry and health genetic test, they can view their status on the gene APOE-e4, a prominent Alzheimer’s risk gene, yet determining the results can be unreliable because “although a blood test can identify which APOE alleles a person has, it cannot predict who will or will not develop Alzheimer’s disease” (Alzheimer’s Association Medical and Scientific Advisory Council). Professionals, however, have the knowledge to analyze the genes in question and determine whether the results may point to Alzheimer’s or any other diseases. They could consider the status of the APOE gene, environmental factors, or ethnicity to determine one’s likelihood of developing Alzheimer’s. In addition, professionals can help to verify the test results. It is possible for errors to occur during the testing procedure, especially in DTC testing, for they are regulated less strictly than clinical tests for validity. Currently, the Center for Medicare/Medicaid Services and the US Food and Drug Administration oversee laboratory-developed tests through the Clinical Laboratory Improvement Amendments of 1988 (Katsanis et al.). However, there is no such regulation in place for DTC tests that offer personal genetic and genomic tests (Katsanis et al.). Thus, consulting a professional for even the most trivial tests could help serve as confirmation of results.

Genetics professionals can provide significant benefits to clinical and DTC genetic testing in counseling, interpretation, and verification of testing results. They can console patients about unexpected findings and aid in making informed decisions based on the results. As casual ancestry and health genetic tests become more popular, the need for regulation and counseling in DTC tests grows stronger and stronger, and therefore, in order to best benefit the consumers, having professionals should be a requirement in both DTC and clinical genetic testing.

Citations/References:

Alzheimer’s Association Medical and Scientific Advisory Council. “Genetic Testing.” Alzheimer’s Association, 2016.
(Genetic Testing and Alzheimer’s)

Boddy, Jessica. “FDA Approves Marketing Of Consumer Genetic Tests For Some Conditions.” NPR, NPR, 7 Apr. 2017, www.npr.org/sections/health-shots/2017/04/07/522897473/fda-approves-marketing-of-consumer-genetic-tests-for-some-conditions.
(23andme approved disease/condition list)

Fite, Elizabeth. “A Family History: Genetic Testing Can Identify Inherited Cancers.”Timesfreepress.com, 25 Dec. 2017, www.timesfreepress.com/news/local/story/2017/dec/25/family-history-genetic-testing-cidentify-inhe/459892/.
(Cancer in Genetic Testing)

Garg, Shivani. “Alzheimer Disease and APOE-4.” Medscape, WebMD LLC, 6 Jan. 2017, emedicine.medscape.com/article/1787482-overview.
(Alzheimer’s and APOE-4)

Katsanis, Sara Huston, and Nicholas Katsanis. “Molecular Genetic Testing and the Future of Clinical Genomics.” Nature reviews. Genetics 14.6 (2013): 415–426. PMC. Web. 16 Jan. 2018.
(Molecular Genetic Testing and the Future of Clinical Genomics)

Olmos, David. “Received an at-Home DNA Test as a Holiday Gift? Proceed with Caution.”UCLA Newsroom, 5 Jan. 2018, newsroom.ucla.edu/stories/received-an-at-home-dna-test-as-a-holiday-gift.
(Concern over at home DNA testing)

Roberts J and Middleton A. Genetics in the 21st Century: Implications for patients, consumers and citizens [version 1; referees: 2 approved, 2 approved with reservations]. F1000Research 2017, 6:2020
(doi: 10.12688/f1000research.12850.1)
(Genetic Testing Implications for People as Patients, Consumers, and Citizens)

Sequeiros, Jorge et al. “The Wide Variation of Definitions of Genetic Testing in International Recommendations, Guidelines and Reports.” Journal of Community Genetics 3.2 (2012): 113–124. PMC. Web. 16 Jan. 2018.
(Wide Variations of the Definition of Genetic Testing)

Sarah Weber
Albuquerque Academy
Albuquerque, NM
Teacher: Mrs. Miranda Fleig

Genetic testing, the process by which geneticists or genetic counselors examine a DNA sample to determine mutations, has become popular to discover ancestry or, increasingly, the risks of inherited disease. Inexpensive access to direct-to-consumer genetic testing, which bypasses the necessity of a trained genetic counselor, has provided users with the ability to discover their risks for diseases ranging from severe food intolerances such as celiac disease to degenerative illnesses like Parkinson’s disease. Preventive disease testing also detects risk for late-onset Alzheimer’s disease (LOAD), a form of dementia characterized by acute memory loss and regressive neurological function that has a variety of genetic and environmental factors but is related to irregularities in the metabolism of amyloid β precursor protein (Reitz and Mayeux, 2015). 80% of the risk factor for LOAD is hereditary, making it an ideal candidate for genetic testing, and knowledge of risk for LOAD early in life can allow testers to make effective lifestyle changes or participate in experimental treatments (Tanzi, 2012).

Despite initial trepidation to allow uncertified corporations to test for serious diseases like LOAD, the FDA recently approved certain genetic tests that are carried out by direct-to-consumer genetic testing facilities following extensive research proving the veracity of these tests, which search for risk markers such as APOE-ε4 (Williamson et al., 2011). APOE-ε4 is a variant of the cholesterol-binding protein APOE; having two APOE-ε4 alleles has been linked to a 45% chance of acquiring LOAD (Dendrite, 2009). As LOAD has no physical manifestation until old age, testing for such markers can improve knowledge of risk factors and give testers a better chance at living symptom-free in the future. Direct-to-consumer genetic testing allows an individual to come to greater understanding of the disease and prompt at-risk relatives to test. As those with mutations for LOAD have a 50% chance of passing the condition on to their offspring, knowledge of such a mutation can allow for family planning (Goldman et al., 2012).

A number of interventions have been tested to prevent LOAD; however, many of these, such as estrogen-containing hormone therapy that counters the effects of menopause on increasing risk for LOAD, are speculated to have been tested too late in disease advancement to make a difference apart from placebo (Henderson, 2014). Early genetic testing can identify markers for LOAD and urge such experimental treatment or simple lifestyle changes that would decrease risk of affliction with LOAD. Some of these changes include increased physical and intellectual activity and a diet rich in antioxidants: intellectual stimulation, such as from reading, alone is associated with a 46% decreased risk of any type of dementia after 7 years, and those at high risk for LOAD could stunt its advancement by simple tasks such as word or number puzzles (Mayeux and Stern, 2012). Additionally, 90.5% of respondents to a survey indicated that they would pursue healthier lifestyle changes if found to be at high risk for LOAD (Caselli et al., 2014). Psychologically, genetic testing can allow an individual to prepare for the effects of a condition, and, though initially resulting in anxiety, most of those who were found to have the variant for LOAD did not experience long-lasting effects after diagnosis and were able to take measures to minimize trauma to family and prepare for future care (Paulsen et al., 2014). Streamlining the process of genetic testing by opting for direct-to-consumer testing has allowed those who choose to undergo it to determine the lifestyle changes that could prevent LOAD with minimum hassle.

FDA-approved direct-to-consumer genetic testing provides a less-expensive alternative to hiring a genetic counselor to interpret DNA. The exclusion of a genetic counselor does not affect the results of broader reports on general health, ancestry, or diseases like LOAD. Although the presence of a trained geneticist may be useful in targeting more specific diseases or to clarify uncertain results, there is no reason that medical professionals must be involved in all testing. Such testing could easily help to improve life expectancy, such as in the case of Sarah, a user of direct-to-consumer testing company 23andMe who found she was at high risk for LOAD and was prompted to pursue a healthier, more active lifestyle to minimize those risks (23andMe, 2018). In an increasingly fast-paced world, a simple genetic test can inform a user of vital information that might otherwise remain obscured. Direct-to-consumer genetic testing is the future of hereditary disease diagnosis and may provide possible cures for diseases like LOAD by testing for risk factors early on and encouraging preventive care and changes.

Citations/References:

Caselli, Richard J., et al. “Public Perceptions of Presymptomatic Testing for Alzheimer Disease.”
Mayo Clinic Proceedings, vol. 89, no. 10, 26 Aug. 2014. PubMed, doi:10.1016/j.mayocp.2014.05.016.
Dendrite. “Resting State Networks Interact with APOE Genotype to Reveal Risk Decades before
Alzheimer’s Degeneration.” Genes 2 Brains 2 Mind 2 Me, WordPress, 17 Sept. 2009, genes2brains2mind2me.com/2009/08/04/resting-state-networks-interact-with-apoe-genotype-to-reveal-risk-decades-before-alzheimers-degeneration/.
Goldman, Jill S, et al. “Genetic Counseling and Testing for Alzheimer Disease: Joint Practice
Guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors.” Genetics in Medicine, vol. 13, no. 6, 16 Apr. 2011. PubMed, doi:10.1097/gim.0b013e31821d69b8.
Henderson, Victor W. “Alzheimer’s Disease: Review of Hormone Therapy Trials and
Implications for Treatment and Prevention after Menopause.” The Journal of Steroid Biochemistry and Molecular Biology, vol. 142, July 2014. PubMed, doi:10.1016/j.jsbmb.2013.05.010.
Mayeux, R., and Y. Stern. “Epidemiology of Alzheimer Disease.” Cold Spring Harbor
Perspectives in Medicine, vol. 2, no. 8, Aug. 2012. PubMed, doi:10.1101/cshperspect.a006239.
Paulsen, Jane S., et al. “A Review of Quality of Life after Predictive Testing for and Earlier
Identification of Neurodegenerative Diseases.” Progress in Neurobiology, vol. 110, 11 Sept. 2013. PubMed, doi:10.1016/j.pneurobio.2013.08.003.
Reitz, Christiane, and Richard Mayeux. “Alzheimer Disease: Epidemiology, Diagnostic Criteria,
Risk Factors and Biomarkers.” Biochemical Pharmacology, vol. 88, no. 4, 15 Apr. 2014. PubMed, doi:10.1016/j.bcp.2013.12.024.
Tanzi, R. E. “The Genetics of Alzheimer Disease.” Cold Spring Harbor Perspectives in
Medicine, vol. 2, no. 10, Oct. 2012. PubMed, doi:10.1101/cshperspect.a006296.
Williamson, Jennifer, et al. “Genetic Aspects of Alzheimer Disease.” The Neurologist, vol. 15,
no. 2, 10 Mar. 2009. PubMed, doi:10.1097/nrl.0b013e318187e76b.
23andMe. “Customer Stories.” 23andMe, 2 Jan. 2018, www.23andme.com/stories/.

Lena Wood
Scarborough High School
Scarborough, ME
Teacher: Mr. Jonathan York

The emergence of direct-to-consumer (DTC) genetic testing as a growing technique of predictive testing has, like any new technology, sparked controversy and apprehension as well as excitement over the unique new potential it holds. Consumers can order at-home test kits from companies such as 23andMe, Counsyl, or MyMedLab for as little as a couple hundred dollars. After following the provided instructions and collecting a saliva sample or buccal swab, the consumer mails the sample to the company, which completes an extensive genetic scan. Results are then sent to the consumer with (in the case of predictive health tests) information about risks for particular diseases. Concern has been raised about consumers misinterpreting the results, as well as the accuracy and usefulness of these tests. However, the possible downsides of DTC testing are outweighed by its many benefits and possibilities, such as the prospect of easily and affordably identifying disease risk factors and perhaps even preemptively treating conditions.

One concern brought up regarding DTC testing is the psychological ramifications on individuals receiving results, especially the risk of misinterpreting the complex data in the absence of a medical professional, which could heighten anxiety or distress. This has been shown in various studies not to be a significant concern. For example, a study by Kaufman et al. of 1,048 consumers found that most individuals (90-94%) accurately interpreted their results and understood the disease risks they faced (Roberts & Ostergren 2013). Another study by Kaphingst et al. also found that the majority of consumers understood their results and did not view them as deterministic (2012). In addition, many companies offer complimentary genetic counseling or information about interpreting the results. The psychological impacts of receiving information about genetics and disease susceptibility has also been proven not to be a major concern. One study found that 90.3% of consumers experienced no increased health anxiety post-test (Roberts & Ostergren 2013). In fact, DTC testing could actually reduce anxiety by making individuals aware of the disease risks they face, which is especially reassuring and useful for people who are adopted or who know little of their family health history. This decrease in health concern was shown in a study by Egglestone et al., which found that of those who reported a change in health anxiety, 85.3% experienced a reduction (2013). Overall, DTC testing has few adverse effects on consumers.

Another question raised about DTC testing is whether it has any true utility or medical value. DTC tests use DNA microarray chips to identify single-nucleotide polymorphisms (SNPs) (Fraker & Mazza 2011), or variations in single base pairs at a specific locus (Rimoin, Pyeritz, Korf, & Emery 2013), that have known associations with disease risk. Admittedly, for complex polygenic disorders, being aware of just one of the associated SNPs gives little indication of an individual’s true risk of developing that disease, since it is impacted by many other factors (other genes, lifestyle, environment). However, DTC genetic tests have compelling value when it comes to the identification of monogenic Mendelian disorders, since a single genetic mutation can be a strong indicator. One of the earliest uses of DTC tests was in identifying BRCA1 and BRCA2 mutations, which are associated with a much greater risk of breast and ovarian cancer since they impact the production of tumor suppressor proteins (National Cancer Institute). For example, just 1.3% of women in the general population will develop ovarian cancer, as compared to 44% with the BRCA1 mutation―a more than 33-fold increase. A similar trend is seen with breast cancer; a woman with the BRCA1 will be six times more likely to develop cancer than one without―72% as compared to 12% (National Cancer Institute). Identifying a BRCA mutation would allow an individual to become aware of their risks and begin breast cancer screenings earlier and more often, allowing for rapid treatment of the cancer, which is often critically important.

Genetic testing done in conjunction with medical professionals also provides these benefits. However, DTC testing is far more accessible, often thousands of dollars cheaper than more traditional options, and eliminates any geographic barriers (since the kit is mailed to the consumer). People who before would have had no reason to go to a hospital for a genetic test may now do so out of curiosity or concern, and may find out a vital piece of information about their health. DTC testing holds many benefits and opportunities for those seeking to learn more about their health and family history.

Citations/References:

BRCA Mutations: Cancer Risk & Genetic Testing. (2018). Retrieved from https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet
Egglestone, C., Morris, A., & O’Brien, A. (2013). Effect of Direct-to-Consumer Genetic Tests on Health Behaviour and Anxiety: A Survey of Consumers and Potential Consumers [Abstract]. Journal of Genetic Counseling,22(5), 565-575. doi:10.1007/s10897-013-9582-6
Fraker, M., & Mazza, A. (2011). Direct-to-consumer genetic testing: summary of a workshop. National Academies Press.
Kaphingst, K. A., Mcbride, C. M., Wade, C., Alford, S. H., Reid, R., Larson, E., . . . Brody, L. C. (2012). Patients’ understanding of and responses to multiplex genetic susceptibility test results [Abstract]. Genetics in Medicine,14(7), 681-687. doi:10.1038/gim.2012.22
Rimoin, D. L., Pyeritz, R. E., Korf, B. R., & Emery, A. E. (2013). Emery and Rimoins Principles and Practice of Medical Genetics(6th ed.). Academic Press.
Roberts, J. S., & Ostergren, J. (2013). Direct-to-Consumer Genetic Testing and Personal Genomics Services: A Review of Recent Empirical Studies. Current Genetic Medicine Reports,1(3), 182-200. doi:10.1007/s40142-013-0018-2

Camille Zywczyk
Palm Beach Central High School
Wellington, FL
Teacher: Mr. William Bartenslager

Saliva-based direct-to-consumer (DTC) genetic testing has been available to the public for over ten years attracting those curiously searching for their ancestry, ethnicity, and disease risks. Subsequently, in April 2017, the Food and Drug Administration allowed 23and Me Personal Genome Service to market tests that provide genetic risk information for late-onset Alzheimer’s Disease (AD) (Commissioner, 2017). Since, in the United States alone, AD accounts for 70% of all dementia cases, one in nine people over the age of 65 are living with AD, and the incidences of AD are increasing due to longer life expectancies, consumers are enticed by and attracted to the conveniences of at home testing for AD risks (Korolev, 2014).

The genetic risk factor identifiable through DTC testing for AD is the presence of one form of the apolipoprotein E gene (APOE) on chromosome 19, the APOEɛ4 allele. A person can have zero, one, or two APOEɛ4 alleles and the inheritance of more alleles increases their risk of developing AD (“Alzheimer’s Disease Genetics Fact Sheet,” 2015). However, inheriting the APOEɛ4 allele does not mean a person will definitely develop AD and 42% of the people who have AD do not have any APOEɛ4 alleles (Messner, 2011). Given these facts, and understanding that the causes of AD are a combination of genetics, environment, and lifestyle, DTC testing for the APOEɛ4 gene seems senseless and may create more anxiety especially when results are interpreted by the consumer alone.

It is difficult for most consumers to interpret their disease risk for AD from nonspecific numeric results and percentages, so medical professionals should be involved in this realm of genetic testing to offer understanding, counseling, and further monitoring of subsequent psychological and emotional behaviors. Simultaneously, physicians are often placed in awkward positions when their patients present them with DTC testing identifying their APOEɛ4 results, which are not diagnostic and for which they are demanding answers. Patients become emotionally anxious, angry, and depressed and according to Khoury (2017) a survey of people, who underwent personal genetic testing and shared their results with their health providers, showed they were not satisfied by the reaction of their providers in that they demonstrated a lack of interest in the results and questioned what medical actions would benefit the patient. Genetic testing for AD, if warranted by a patient, should be administered under the guidance of a physician or genetic counselor who can directly relay sufficient information about the implications and risks of being tested and who can recommend appropriate follow up actions for their patients.

DTC genetic testing for AD provides few or no health benefits to consumers, because as mentioned previously, the presence of the APOEɛ4 allele is only a risk factor, and more importantly, AD is an irreversible, progressive, and untreatable neurodegenerative brain disorder (Lacaze, Tiller, & Ryan, 2017). Attracting consumers with marketing techniques praising easily accessible genetic information along with hopes of prevention is somewhat irresponsible and unethical when it comes to AD. How important or conclusive are positive APOEɛ4 results, when there is no treatment, no slowing down the progression of the disease, or reversing the path of the disease? There are currently no lifestyle changes that reduce the risk of developing AD and the few approved medications and drug therapies, at best, only help control some of the symptoms of the disease (Korolev, 2014). It is wrong for DTC genetic testing companies to advertise any hope of preventing this disease and to mislead curious consumers with their marketing strategies. Genetic curiosity regarding AD should be discussed face to face between health care professionals, supportive family members and friends, and the individual questioning his or her risk.

All in all, DTC genetic testing for AD is not a diagnostic test, but, reveals elevated risk results for the disease, by mail, to unprepared and uncounseled consumers. An individual who is curious about his or her risk of developing AD should fully understand the fact that positive DTC testing for the APOEɛ4 allele only represents a risk factor for the disease. Even if the risk factor is present, development of the disease is not certain and there is no cure or treatment for the disease. If an individual remains persistently curious about his or her risk factors, then genetic testing should be done professionally, with access to counseling and related support.

Citations/References:

References
Alzheimer’s Disease Genetics Fact Sheet. (2015, August 30). Retrieved February 20, 2018, from https://www.nia.nih.gov/health/alzheimers-disease-genetics-fact-sheet
Commissioner, O. O. (2017, April 6). Press Announcements – FDA allows marketing of first direct-to-consumer tests that provide genetic risk information for certain conditions. Retrieved February 20, 2018, from https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm551185.htm
Goldman, J. S., Ms,MPhil, Hahn, S. E., MS, & Bird, T., MD. (2011). Genetic counseling and testing for Alzheimer disease: Joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors: Erratum. Genetics in Medicine,13(8), 749. doi:10.1097/gim.0b013e31822dd062
Gollust, S. E., Hull, S. C., & Wilfond, B. S. (2002, October 09). Limitations of direct-to-consumer advertising for clinical genetic testing. Retrieved February 21, 2018, from https://www.ncbi.nlm.nih.gov/pubmed/12365961
Hudson, K., Javitt, G., Burke, W., & Byers, P. (2007). ASHG Statement* on Direct-to-Consumer Genetic Testing in the United States. American Journal of Human Genetics,110(6), 1392-1395. doi:10.1097/01.aog.0000292086.98514.8b
Khoury, M. J. (2017, April 18). Direct to Consumer Genetic Testing: Think Before You Spit. Retrieved February 20, 2018, from https://blogs.cdc.gov/genomics/2017/04/18/direct-to-consumer-2/
Korolev, I. O., PhD. (2014). Alzheimer’s Disease: A Clinical and Basic Science Review. Medical Student Research Journal,4(2014), fall, 24-33. doi:10.3402/msrj.v3i0.20133
Kuehn, B. M. (2008). Risks and Benefits of Direct-to-Consumer Genetic Testing Remain Unclear. Jama,300(13), 1503. doi:10.1001/jama.300.13.1503
Lacaze, P., Tiller, J., & Ryan, J. (2017). The Dangers of Direct-to-Consumer Genetic Testing for Alzheimer’s Disease. Journal of Bioethical Inquiry,14(4), 585-587. doi:10.1007/s11673-017-9817-6
Messner, D. A. (2011). Informed choice in direct-to-consumer genetic testing for Alzheimer and other diseases: lessons from two cases. New Genetics and Society,30(1), 59-72. doi:10.1080/14636778.2011.552300

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