PhD degree in Foundations of the Life Sciences and their Ethical Consequences European School of Molecular Medicine (SEMM) and University of Milan Faculty of Medicine Settore disciplinare: FIL/02 Consuming Genomes: The Coproduction of a New Scientific and Technological Order for Genetic Testing Margaret Curnutte IFOM-IEO Campus, Milan Matricola n. R07405 Supervisor: Dr. Giuseppe Testa IFOM-IEO Campus, Milan Anno accademico 2011-2012 Curnutte 1 Abstract At the intersection of consumer culture, venture capital, biotechnology, and increased patient autonomy, a new biomedical service industry has emerged. Since 2006 companies in the US have been altering the landscape of health care by offering Direct-to-Consumer (DTC) genetic testing for a variety of diseases and traits. Recently, the activities of 23andMe and Navigenics, the two leading providers of DTC genetic services, have come under the scrutiny of various regulators and institutions, including the Food and Drug Administration (FDA) and the House of Representatives’ Committee on Energy and Commerce. In this dissertation, I situate direct- to-consumer genetic testing within the historical trajectory of genetic testing technology and the increasing profitability of information technology and biomedicine. I then analyze the recent encounters between DTC providers and regulators to identify the key scientific and discursive resources that are being employed to position the genetic testing technology with respect to regulatory initiatives. My empirical analysis of a rich set of primary sources (including websites, policy documents, and interviews) shows that the emergence of DTC genetic testing is a conspicuous instance of coproduction: a new social and technological order for genetic testing has led to the emergence of a new figure, the genetic consumer. Curnutte 2 TABLE OF CONTENTS List of Abbreviations .......................................................................................................................6 Introduction .......................................................................................................................................7 The Space for “Non­Medical” Genetic Testing................................................................................ 14 Legal Constraints ..................................................................................................................................... 22 Structure of the Dissertation ............................................................................................................... 25 Chapter 1: Fertile Ground for a New Biomedical Service Industry .............................. 27 Genetic Testing Technology................................................................................................................. 27 Evaluative Criteria for Clinical Genetic Testing.........................................................................................30 Information Technology ....................................................................................................................... 33 Genetic Information: Multiple Uses................................................................................................... 36 Changing Bio­Economy.......................................................................................................................... 40 A Venture Capital Backed Biotechnology Industry..................................................................................40 The Making of the Medical Consumer............................................................................................................42 Conclusion.................................................................................................................................................. 44 Chapter 2: A Right to Consume: A New Business for Genetic Testing.......................... 46 What is Direct­to­Consumer? .............................................................................................................. 49 23andMe ..................................................................................................................................................... 52 What does the 23andMe Customer Consume?...........................................................................................58 Building Momentum for Research Participation ......................................................................................63 Navigenics .................................................................................................................................................. 69 What Does the Navigenics Customer Consume?.......................................................................................76 Curnutte 3 Partnerships..............................................................................................................................................................79 Conclusion: Common Building Blocks, Distinct Products.......................................................... 81 Chapter 3: Institutionalizing Direct­to­Consumer Genetic Testing: FDA ................... 84 The History of DTC Genetic Test Regulation .................................................................................. 85 FDA ............................................................................................................................................................... 93 FDA’s jurisdiction over LDTs .............................................................................................................................96 A risk‐based approach to regulation ..............................................................................................................97 In vitro diagnostic tests: bifurcated regulatory pathway......................................................................99 Enforcement Discretion .................................................................................................................................... 100 The politics of assigning an ontology..............................................................................................102 Enforcement discretion: reinforcing law’s lag?...........................................................................104 Access to genetic data ..........................................................................................................................109 Standardizing futures......................................................................................................................................... 112 Conclusion................................................................................................................................................114 Chapter 4: Investigation by Committee on Energy and Commerce............................117 Letters from the House Committee on Energy and Commerce ..............................................119 Building a Case...................................................................................................................................................... 125 “Direct­To­Consumer Genetic Testing and the Consequences to the Public Health” .....128 “Direct‐to‐Consumer Genetic Tests: Misleading Test Results Are Further Complicated by Deceptive Marketing and Other Questionable Practices” .................................................................. 131 Testimony................................................................................................................................................................ 143 Conclusion………………………………………………………………………………………………………….154 Methodological Appendix.........................................................................................................161 Published Sources .................................................................................................................................161 Curnutte 4 Ethnographic Observation .................................................................................................................162 Supplementary Material ...........................................................................................................164 23andMe’s Test Panel: .........................................................................................................................164 Carrier Status (24)............................................................................................................................................... 164 Drug Response (19) ............................................................................................................................................ 164 Traits (50) ............................................................................................................................................................... 164 Disease Risk (100)............................................................................................................................................... 165 Navigenics’ Test Panel: ........................................................................................................................167 Health Conditions (28) ...................................................................................................................................... 167 Medications (12) .................................................................................................................................................. 167 Bibliography..................................................................................................................................168