Pathway was very busy last week. We had several meetings with FDA, and we participated in the Subcommittee on Oversight and Investigations’ hearing on “Direct-To-Consumer Genetic Testing and the Consequences to the Public Health,” held last Thursday. The media has generally characterized the hearing as a slam on the direct-to-consumer genetic testing industry, picking up on statements made by congressmen of “snake-oil,” or according to the Government Accountability Office’s (GAO) report, test results that “are misleading and of little use to consumers.” While we feel that the Congressional hearing did raise some valid concerns, many of these concerns are unfairly and inaccurately being applied to the three innovative companies that testified: Pathway Genomics, Navigenics and 23andme.

We want the public, FDA and Congress to know that Pathway is not a direct-to-consumer (DTC) genetic testing company. We define DTC as allowing a customer to order and receive test results without the involvement of a licensed physician. New technologies have enabled expert physicians to facilitate this in ways that differ from a traditional physician-patient relationship, and we feel that this is an important trend in facilitating patient access to expert providers, lowering costs, as well as addressing some privacy concerns. Nevertheless, even though Pathway has always had expert physician and genetic counselor review and oversight over the ordering and delivery of our genetic testing services, Pathway voluntarily suspended the ability for customers to purchase a collection kit at our website or any retail outlets.

Furthermore, the GAO report released at the congressional hearing investigated 15 companies and identified some practices of DTC genetic testing companies that should not be tolerated and have no place within the scientific and medical community. As acknowledged during the hearing, none of the companies that testified engage in those practices, and only one of the other twelve was identified. As a result, media coverage following the hearing focused on Pathway Genomics, Navigenics, and 23andme, and it unfairly associated the scientific leaders of this emerging industry with what the GAO referred to as “bottom feeders” who are exploiting people’s misunderstanding of genetic tests.

We would be remiss if we did not recognize that the GAO report highlights some legitimate concerns that are relevant to Pathway. During the hearing, an audio clip was played that implied that one of Pathway’s genetic counselors encouraged a woman to submit her fiancé’s saliva sample in order to surprise him with a genetic report. It is important to know that the caller was talking to a customer service representative, and not a genetic counselor. Regardless, this occurrence was brought to the attention of our management team immediately after it happened, and long before we knew it was part of a GAO investigation. We addressed the issue with the customer service team to make it clear that we do not accept samples to be submitted on behalf of someone else. Furthermore, we require personal consent for every sample.

Moreover, the GAO highlighted different interpretations in risk of outcomes reported by the GAO. We appreciate how one concludes from this that these tests are unreliable, but it is important to recognize that only applies to the health conditions report, not carrier status or drug response and that this report provides an estimate of risk, not a diagnosis of disease or prediction.   Differences in interpretation of test results are not uncommon in medical care. This is why second opinions are often requested by patients, and it is why doctors differ in their opinions on how to guide patient treatment. It is for these reasons that we encourage our customers to use this information as one additional piece of information to be used in making health decisions, as an enhancement to and not a replacement for other risks including environment, lifestyle and family history. Pathway, 23andme and Navigenics all apply different rules for which genetic markers to use and which research paper to reference for odds ratio calculations, but that does not make them incorrect. To help offer transparency into how Pathway calculates results, we are developing a new web page laying out our processes for scientific curation, the criteria that we use in selecting research publications and the methods that we use to calculate risk for the health conditions report. Additionally, we support the common conclusion that regulatory bodies and industry need to agree on standards, and look forward to an ongoing dialogue with FDA and others to define those.

Moving forward, if this past week highlighted one thing for us it is that genetics and genetic information is significantly misunderstood. Some of this is because our knowledge is swayed by science fiction, popular movies and television shows that portray extreme scenarios, often emphasized for their entertainment value over their scientific credibility. Further, the field of genetics is broad, and it covers a variety of testing. The discussions about legitimate issues and concerns need to be focused more specifically to the types of testing and procedures being analyzed. The issues and concerns surrounding genetic risks for complex, adult-onset health conditions are very different from those surrounding carrier status testing, drug response testing, or other forms of testing. Given the complexity of these issues, in-depth objective analyses and discussion often do not occur, intensifying the potential for misconceptions.

As a leader in this emerging industry, Pathway Genomics does not seek to hide behind these realities or use them to brush off legitimate concerns. We believe that genetic testing holds the promise of fundamentally shifting the delivery of health care, allowing for more personalized treatment and proactive prevention of disease. While our understanding of genetics is still growing, it is no reason to postpone taking advantage of the best information we have today. To that end, this post marks the beginning of a multi-series project being initiated by Pathway to educate physicians, patients, policy makers, and anyone else interested in a greater understanding of the emerging field of genetics. This series will aim to be objective and informative, and will focus on a single topic at a time, allowing us to provide the depth and focus that are needed to establish a fair understanding of this industry, its promise and its risks. Our first post, which will be available here next week, will provide an in-depth explanation of why different genetic testing companies can produce different estimates of risk for complex health conditions.