Genetic testing began as a niche service limited to a small number of specialized doctors that could test for a few rare diseases, but today consumers can test for over 1200 disease combinations ranging from breast cancer to cystic fibrosis. The falling costs and the lowering of technical barriers have transformed genomics and spurred a new industry: Direct to Consumer Genetic Testing (DCGT). While doing some research on this industry, I found that the current practices of DCGT companies raise some troubling ethical concerns.This case study also inspired me to think critically about how “sustainability” is discussed in the start-up lexicon, and to propose a new definition of start-up sustainability going forward.
Perhaps the foremost critique of DCGT is lack of medical validity. Contradictory results commonly arise from different tests, and the lack of regulatory framework means there is no quality control held over the science. Despite this, a survey of 38 DCGT companies conducted by Leonhard Hennen in 2010 found that “only thirty-seven percent of the companies’ websites give specific information on the analytical validity of the genetic tests offered (accuracy of the test identifying the biomarker).” The concern is not so much that DCGT companies will misdiagnose a disease—government regulations prohibit diagnosis from anyone who is not a medical professional—but that a negative result could cause consumers to think they are no longer at risk for a disease and delay a visit to a doctor.
Medical concerns also include clinical validity, or the relationship between the genetic marker and the patient’s clinical status. In Dementia Entanglements in a Postgenomic Era, Margaret Lock uses Altzheheimer’s disease as a particularly illustrative example of the faulty risk assessments given on the basis of individual genetic testing. Although there was early excitement that the Alzheimer’s puzzle could soon be “solved” after the discovery of the APOE gene in 1993, scientists now unanimously agree that the presence of the e4 allele on the APOE gene “is neither necessary nor sufficient to cause the disease,” and that “at least 50 percent of e4 carriers never succumb to Alzheimer’s disease”. Scientists recognize that other genetic and environmental factor effect the onset of disease, but only 24% of companies in Hennen’s study give information on the clinical validity of genetic testing.
DCGT companies have also been criticized for failing to offer counseling services to those who use their services. In her study of deep vein thrombosis, Paula Saukko found that while some “well informed” patients felt counseling was unnecessary, a subgroup of diagnosed patients showed distress and confusion about thrombophilia. This subgroup included those with a strong family history of DVT, a personal history of recurrent clotting, and who came from lower classes. The “less informed” patients felt that genetic counseling would have been helpful in dealing with their diagnosis, yet only ten of the 38 DCGT companies in Hennen’s study mention on their websites that they offer counseling service, and counseling in these instances is mostly done through written information via mail or web-log. Of course, it is impossible to determine whether or not the customer properly understands counseling provided in those ways.
The start-up community loves to talk about “sustainability” in terms of financial metrics. I have heard many times that if your Customer Lifetime Value (CLTV) is greater than your Customer Acquisition Cost (CAC), you have a “sustainable business.” I think that going forward, we need to expand our definition of start-up sustainability. Sustainable businesses require not only sustainable financial metrics, but a sustainable market. Likewise, a “sustainable market” generally refers to the size of the market (are there enough people out there who want genetic testing?). This is also an incomplete definition: a “sustainable market” comprises more than just market size. It includes the existential threat of regulation. The American College of Medical Genetics has advised the public to avoid “home DNA tests” due to the possible misinterpretation of results and the lack of follow up counseling, and the FTC and the FDA jointly released a consumer alert targeting the lack scientific validity in some genetic tests. I am sure that the entrepreneurs who run DCGT companies are aware of the “best practices” espoused by their more traditional peers, and that they are aware that not following them has helped DCGT companies to raise massive rounds of financing. But this growth is not sustainable because these companies have contributed in creating an unsustainable market.
DCGT companies argue that they give more consumers more access to the latest achievements of human genome research, and that by growing genetic testing supply they are helping to create a world of individualized, preventive medical care. But DCGT companies will never reach their goal of improving health for consumers if they cannot first create a healthy industry.