The declining cost of DNA sequencing, coupled with the public's growing interest in personal genomics, has spurred the growth of direct-to-consumer (DTC) genetic testing for health risks. Today, several DTC companies offer tests that include high- and moderate-penetrance genes that are associated with a significantly increased risk of developing certain diseases. While the availability of these tests may benefit consumers by broadening access to potentially life-saving genetic information, widespread access also poses physical and psychosocial risks. Despite these risks, there is a lack of research on DTC genetic tests that have significant implications for disease risk. But in order to evaluate the risks and benefits of current DTC offerings, a new approach to studying DTC outcomes is critically needed. The reason is that, in the past, academic researchers partnered with companies to study DTC outcomes. Today, DTC companies are less willing to partner with academics, instead preferring to conduct their own research in-house. To meet this need, the proposed K01 Award will assess the feasibility of and optimize a novel approach to studying DTC outcomes?the DTC Outcomes Evaluation Paradigm. This paradigm is novel because it: (1) does not rely on partnering with a DTC company and (2) can be used to study a wide range of current and future DTC tests and companies. To assess the feasibility of this paradigm?while concurrently addressing the lack of data for DTC genetic tests that analyze high- and moderate- penetrance disease susceptibility genes?the proposed K01 Award will recruit individuals to undergo a DTC genetic test that sequences 60 cancer and cardiac disease susceptibility genes.
The aims of the proposed research are:
Aim 1 : To assess the feasibility of and optimize the DTC Outcomes Evaluation Paradigm for studying real-world DTC outcomes.
Aim 2 : To obtain initial cognitive, affective, and behavioral short-term and 6-month data through four surveys taken by individuals undergoing a DTC genetic test for cancer and cardiac disease susceptibility genes.
Aim 3 : To use semi-structured qualitative interviews to further understand participants' experiences undergoing DTC genetic testing in order to identify novel constructs not captured by quantitative instruments. The candidate's career goals are: (1) to pursue an academic career in the ELSI of genetics and genomics by establishing an independent research program that incorporates quantitative and qualitative research methods and conceptual analysis; (2) to publish high-impact scholarship that engages an interdisciplinary audience of scholars, policy makers, and the general public; and (3) to inform public discourse about genetic testing and develop evidence-based policy recommendations that promote the safe and ethical use of DTC genetic tests. Throughout the K01 Award period, the candidate will, in conjunction with mentored research, pursue formal coursework in research methods, human genetics, and health law and regulatory policy. The candidate will also pursue professional development activities, with an emphasis on developing collaborative relationships with an interdisciplinary network of scholars, disseminating research, and writing an R01.
The proposed K01 Award?'Evaluating the Risks and Benefits of the Next Generation of Direct-to-Consumer Genetic Tests??will enable the candidate to acquire the academic background, research experience, and professional skills to become an independent ELSI investigator exploring the risks and benefits of current and emerging direct-to-consumer (DTC) genetic tests. The proposed research will fill a significant gap in the existing literature by evaluating the outcomes and risks and benefits of DTC genetic tests that include genes that are associated with a significantly increased risk of developing serious health conditions, such as cancer and cardiac disease. To accomplish this, the candidate and her team will assess the feasibility of and optimize a novel approach to studying DTC outcomes?the DTC Outcomes Evaluation Paradigm?that, unlike previous related research, does not depend on partnering with a DTC company and can be used to study a wide range of current and future DTC tests and companies.
