The Social Implications of Knowing One's Predispositions

I. Introduction


"Would you want to know if you were at risk for things like Alzheimer's, diabetes, or breast cancer? You will soon be able to find out, by the end of this week, in just the form of a test, a genetic testing kit available at the drugstore. And this raises now a host of issues." That was NBC's Brian Williams' segway into his story on the May 11, 2010 edition of his news broadcast, the Nightly News. Williams was reporting on an announcement made by Pathway Genomics, a genetic analysis company, to partner the drugstore super giant Walgreens, to offer genetic tests to consumers.[3] The plan included Walgreens stocking nearly 7,500 kits containing the necessary equipment for an at-home DNA saliva test at a cost between $20-$30. Participants would then send their samples to Pathway Genomics' San Diego lab where they would be analyzed so that the subject could later be informed of genetic diseases that they are carriers for, or for which they are at risk. Additionally, they would learn how certain medications would interact with the body, as well as ancestral analysis for up to $249. While similar genetic tests have been available for a number of years online through Pathway Genomics and other companies such as 23andMe or Navigenics, this was the first time such test would be offered over-the-counter at local drugstores.[4]

Not only did Williams describe Pathway Genomics' plan to provide affordable genetic testing to the general public, but he also turned the two minute segment into an ethical debate. He interviewed a Stanford University law professor who considered the notion a "bad idea", a Pathway employee who believed that "people should have a right to any kind of information about their health", and passers-by with interesting perspectives of their own. What really resounded with me though was a statement by Yale Cancer Center Director, Ellen Matloff, "Might they say, My gosh, I guess I shouldn't have children? Or, My goodness, I'm going to die at a young age, let me spend all of my money and drop out of college?"[5] This was my introduction to the issue of genetic tests, and what an introduction it was. This posed an interesting question for me. Is it preferable to be blissfully unaware, or to live life with the knowledge that one day your body will fail you and there is nothing that you can do to prevent it? Or would you want to know that your children may have a fifty percent chance of being born with a genetic birth defect, so you could choose to not even try to have a baby? While the answers to such questions are obviously extremely personal and tend to vary in nature based on the individual, I felt that this was an issue about which I needed to become more informed. By doing so, I could formulate a thoughtful opinion of my own that takes into account all sides of the argument, and perhaps more importantly, I would be able to encourage debate among you and your classmates as well

II. Background of Pathway Genomics and Genetic Testing Kits

Genetic testing was pioneered in the 1950s and enjoyed early success in its ability to successfully identify PKU in babies from a single drop of blood.[6] Early testing methods occurred in one of two manners: microscope-based or biochemical techniques. Microscope-based genetic tests used microscopes to examine the chromosome themselves. One such microscope-based test is known as karyotyping. Biochemical techniques, on the other hand, examined protein components for irregularities. Neither of these techniques utilized DNA as a tool for genetic testing as it was not yet fully understood.[7]

As times changed, DNA has became the foremost tool in genetic testing. The first successful DNA test occurred in 1985 and utilized two different methods of testing. The first of these is known as direct testing. Direct tests recognize tiny mutations that can change the instructions DNA gives to a gene. However, direct tests can only be used when the specific gene found in genetic disorders is known; in other words, geneticists have to know what they are looking for. Therefore, direct tests are only used for common genetic diseases in which the mutations that cause them have been identified.[8] The second method of genetic testing that utilizes DNA is known as linkage testing. Linkage tests look at the sequence of nucleotides in DNA and detect “markers” which may indicate the presence of an unknown gene that can cause a genetic disorder. Linkage tests, however, do not provide concrete information as to whether or not an individual has the disorder, will definitely develop the disorder in the future, or will pass it on to their offspring. Rather, linkage tests will identify an individual’s risk for developing a genetic disorder.[9]

The most recent development in genetic testing has come in the form of Direct-to-consumer tests or DTC tests. DTC tests are genetic tests that are privately marketed to the individual. DTC tests are offered by private businesses, most notably 23andMe and Navigenics.[10] However, in recent weeks it is Pathway Genomics that has received the most attention. Pathway Genomics was founded in July of 2009 by James Plante following the death of his father from a genetic disease. Plante was so affected by his father's death that he dedicated his life to preventative health. He made it his mission to educate the public about their personal health risks so that families would no longer be blind-sided by genetic diseases. In order to best educate the public about genetic disorders, Plante founded Pathway to sell DTC tests online, combining direct and linkage tests in a manner known as “comprehensive genotyping”.[11]

III. Explanation

While companies have been offering DTC genetic testing online for a number of years, Pathway Genomics is the first company to plan for its products to be available to the consumer through drugstores. Pathway's tests do not identify the entire genome, but rather identify predetermined genes that could cause adverse reactions to medications, that might be potentially harmful to offspring, or that could cause genetic diseases.[12] The process used is known as Comprehensive Genotyping and utilizes a microchip that is programmed to scan thousands of bases and identify those specific genes. The test only identifies the genes for 61 common medical conditions including cystic fibrosis, diabetes, and certain cancers.[13] Unfortunately, these tests follow a basic template and, in many cases, are run by technicians rather than medical professionals. As a result, they are prone to miss more rare, and often more serious diseases that are not on the list. Furthermore, the tests also frequently do not detect or interpret unknown variations on common genes. Once testing is complete, an individual's results can be obtained online on a private, password-protected page. While each test finds and records either the absence or presence of genes for each of the 61 conditions, only those specified in the individual's order appear online.[14]

IV. Genetic Connections

Pathway Genomics' genetic testing kits are directly related to many of the subjects that we have covered in this course and tangentially related to others. First of all, Pathway Genomics is attempting to unravel the remaining mystery of DNA while benefiting the population at large. As a class, I believe that we all entered this program in order to deepen our knowledge of genetics and many of us intended to use that knowledge in future careers. In our unit 1 discussion "What do you most want to learn", some focused on lab and research work like Tori, Catherine, and Meeker. Others, like Maggie, Charlotte, Neha, and I expressed an interest in genetic applications in the medical profession. Still others, I am sure, will apply the information they learned this semester to find a cure for cancer or to treat Multiple Sclerosis, "inspiring each girl to fulfill her potential and better the world".
Not all of our intentions are similar, but many of the things we have worked on this semester coincide with the mission of Pathway Genomics. Just as we worked with sex-linkage and other types of inheritance, a main component of the genetic tests are aimed at identifying potential disorders that can be passed from parent to child. Many of the diseases they test for to find a child's risk are those we discussed, such as cystic fibrosis and Tay-Sachs disease. And, just as we worked with pedigree analysis in unit 5, Pathway Genomics does similar work with their ancestry program where a DNA sample is traced back tens of thousands of years, eventually identifying the subject within a certain haplogroup.[15]
The genetic tests themselves, however, are most closely related to the work we have been doing in units 7 and 8. For example, Pathway has the technology to analyze proteins found in samples, compare them to what is considered "normal", and then use those results to trace irregularities back to their mutations. They are also able to identify mutations that alter the amino acid sequence and the produced protein, putting the individual at risk for diseases such as PKU, which is the absence of necessary proteins. This is nearly identical to the work we recently completed relating to both translation and mutations.

V. Social and Ethical Implications

I believe that the issues relating to the plan to sell genetic testing kits at Walgreens is most closely related to the "Telemeres-good or bad" discussion that we had in unit 2. During this discussion, the class embraced an ethical debate about whether or not it was right to pursue certain issues in human life in the name of science. As Kelsey stated, "humans have already created too much damage by exploiting science to alter the world for our personal gain"; many would argue that is precisely what DTC genetic testing does. It becomes an ethical question. As Dr. Robert Marion said, "For a lot of other things they are testing for, we are not at a point yet where we can understand the results in a way that will be helpful to most families", and, as Dr. Jeffery Vance adds, "they are giving people information without knowledge".[16] This disconnect is apparent since the company will simply provide the individual which information, not bothering to explain what their results mean to them and to their families, for their jobs, or for their insurance. In fact, while Pathway boasts about the genetic counselors that they have on call for clients, they charge a hefty additional cost for utilizing this service.[17] This process is potentially quite detrimental since information is provided to the consumer which they do not necessarily understand and which they are left to interpret on their own. Information without knowledge may be a virtual death sentence, causing some to make rash decisions, drop out of school, or squander their life savings, all for a disease whose gene may never be expressed.[18]
In addition, just because one has a high risk factor for a certain condition does mean that he or she will ever suffer from it. Genetic diseases are often only expressed because of environmental factors, which could lead to unnecessary preemptive measures. For example, if the test results informed a woman that she was at risk for breast cancer and she chose to get a double mastectomy, this could alter her life forever when she may have never developed the disease. Pathway recognizes the risk and acknowledges it to some extent by referring to their kits as "consumer information" rather than as an actual medical test.[19] This wording has allowed DTC companies to avoid requiring FDA approval to market their goods since they are not technically considered medical.

Another important social implication involves the privacy issues associated with these tests. As Martha Rosenberg stated, "when you think of the profit potential your DNA represents to bio-enterprising companies, the real danger of at-home DNA kits is probably not the lack of a genetic counselor, but the lack of a legal one". [20] While Pathway Genomics professes a high level of confidentiality and has a trademarked "DNA Lockbox", [21] they reserve the right to "disclose or report your personal information when we believe in good faith that the disclosure is required" as is included in the fine print of clients' Terms of Use contract.[22] With this loophole, is it possible that DTC testing companies can sell client information to pharmaceutical companies or research agencies? Will employers refuse hiring a well qualified applicant due to predispositions to genetic disorders? Will the results of DNA tests prevent one from obtaining health coverage because they are deemed too risky by insurance companies? Well, the FDA is not taking any chances.

VI. The Future of Pathway Genomics' Genetic Testing Kits

Following Pathway Genomics' announcement that they were to sell their kits in Walgreens on May 11, the Food and Drug Administration took notice. Upon realizing that they had not given their approval to such kits, the FDA deemed their imminent sale illegal. Two separate government investigations have begun in the last two weeks following Pathway's announcement, conducted by both the FDA and the House of Representatives' Energy and Commerce Committee. The inquiries will focus on the tests sold by the three largest companies in the field, 23andMe, Navigenics, and Pathway Genomics. All three have been asked to give testimony or other information regarding their respective companies and their tests to the committee by early next month. Additionally, they have been ordered to provide the FDA with proof of their approval or adequately explain why such approval was not needed by May 25, 2010. Failure to provide such information could lead to an unfavorable verdict from the congressional committee and could mean disaster for the Direct to Consumer genetic testing community.[23] The industry has already been rocked in the aftermath of the May 11 announcement and could potentially be shut down completely. With their future up in the air, one thing is for sure: "Nobody at any DTC genetic testing company … is going to be getting much sleep over the next few weeks."[24] And as for Pathway Genomics' genetic testing kits set to be stocked on Walgreens shelves? Well, let's just say that in light of recent developments, Walgreens has "temporarily" postponed it.
  1. ^
  2. ^ Perrone, Matthew. "Walgreens Says It Won't yet Sell Genetic Test Kit." Plain
    Dealer [Cleveland] 14 May 2010: A10. Print.
  3. ^
  4. ^ Pollack, Andrew. "Start-Up May Sell Genetic Tests in Stores." New York TImes 10
    May 2010: n. pag. New York Times Archieves. Web. 29 May 2010.
  5. ^ Williams, Brian, host. Nightly News. NBC. 11 May 2010. Product Design and
    Development. Web. Transcript. 29 May 2010. <
  6. ^ Lewis, Ricki. "A Brief History of Genetic Testing: What the First Generation of
    Tests Can Tell Us About the Latest." Science Progress. N.p., 5 May 2008.
    Web. 29 May 2010. <
    a-brief-history-of-genetic-testing/>. Type your reference here.
  7. ^ Teichler Zallen, Doris. Does It Run in the Family? : A Consumer's Guide to DNA Testing for Genetic Disorders. New Brunswick: Rutgers UP, 1997. Print.
  8. ^ Ibid 31-32.
  9. ^ Ibid32.
  10. ^ "New DTC Genetics Firm Pathway Genomics Launches." Genome Web Daily News. Genome Web, 15 July 2009. Web. 29 May 2010.>.
  11. ^ "James Plante, Founder and CEO." Management. Pathway Genomics, n.d. Web. 29 May 2010. <>.
  12. ^ DeNoon, Daniel. "Concerns Raised About Drugstore Genetic Test." CBS CBS, 12 May 2010. Web. 29 May 2010.>.
  13. ^ Type your reference here.
  14. ^ DeNoon, Daniel. "Concerns Raised About Drugstore Genetic Test." CBS CBS, 12 May 2010. Web. 29 May 2010.>.
  15. ^ "What Is Comprehensive Genotyping?" Pathway Genomics. N.p., n.d. Web. 29 May 2010. <>.
  16. ^ DeNoon, Daniel. "Concerns Raised About Drugstore Genetic Test." CBS CBS, 12 May 2010. Web. 29 May 2010.>.
  17. ^ Ibid.
  18. ^ Williams, Brian, host. Nightly News. NBC. 11 May 2010. Product Design and Development. Web. Transcript. 29 May 2010. <>.
  19. ^ Pollack, Andrew. "Start-Up May Sell Genetic Tests in Stores." New York TImes 10 May 2010: n. pag. New York Times Archieves. Web. 29 May 2010.
    < 201015?key=1371fc447e938e39d98eb224eb3135f638327674>. T
  20. ^ Rosenberg, Martha. "Buyer Beware: Over the Counter DNA Tests Can Cause More Harm Than Good." AlertNet. N.p., 20 May 2010. Web. 29 May 2010. ire>.
  21. ^
  22. ^
  23. ^
  24. ^ Dan Vorhaus