DOCSLIB.ORG

Direct-To-Consumer Genetic Testing: Empowering Eu Consumers and Giving Meaning to the Informed Consent Process Within the Ivdr and Gdpr Frameworks

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Direct-To-Consumer Genetic Testing: Empowering Eu Consumers and Giving Meaning to the Informed Consent Process Within the Ivdr and Gdpr Frameworks Washington University Global Studies Law Review Volume 19 Issue 1 2020 DIRECT-TO-CONSUMER GENETIC TESTING: EMPOWERING EU CONSUMERS AND GIVING MEANING TO THE INFORMED CONSENT PROCESS WITHIN THE IVDR AND GDPR FRAMEWORKS SARA A. MAHMOUD-DAVIS Follow this and additional works at: https://openscholarship.wustl.edu/law_globalstudies Part of the Privacy Law Commons Recommended Citation SARA A. MAHMOUD-DAVIS, DIRECT-TO-CONSUMER GENETIC TESTING: EMPOWERING EU CONSUMERS AND GIVING MEANING TO THE INFORMED CONSENT PROCESS WITHIN THE IVDR AND GDPR FRAMEWORKS, 19 WASH. U. GLOBAL STUD. L. REV. 1 (2021), https://openscholarship.wustl.edu/law_globalstudies/vol19/iss1/5 This Article is brought to you for free and open access by the Law School at Washington University Open Scholarship. It has been accepted for inclusion in Washington University Global Studies Law Review by an authorized administrator of Washington University Open Scholarship. For more information, please contact [email protected]. Washington University Global Studies Law Review VOLUME 19 NUMBER 1 2020 DIRECT-TO-CONSUMER GENETIC TESTING: EMPOWERING EU CONSUMERS AND GIVING MEANING TO THE INFORMED CONSENT PROCESS WITHIN THE IVDR AND GDPR FRAMEWORKS SARA A. MAHMOUD-DAVIS* ABSTRACT Consumer genomics is an industry that is undergoing exponential growth. Although consumers in the United States (U.S.) currently purchase the bulk of online direct-to-consumer (DTC) genetic tests, the DTC industry’s business model depends on exploiting markets worldwide. DTC genetic testing companies increasingly seek to market and sell their services throughout the European Union (EU), which is one of the world’s largest economies and is home to a digital, educated, and wealthy consumer base. Since May 2018, the EU General Data Protection * Sara Mahmoud-Davis is a Virginia-licensed attorney and holds the CIPP/E credential (Certified Information Privacy Professional/Europe). In August 2019, she earned an LL.M. with distinction in European and International Business Law from the University of Vienna School of Law, Austria. She practiced regulatory law for six years at the U.S. Department of Transportation. Previously, from 2000-2007, she worked as a foreign policy analyst for the U.S. Government, including at the U.S. Embassy, Abu Dhabi, UAE. In 2010, she received her J.D. cum laude from Case Western Reserve University School of Law, with a concentration in health law. She has an M.A. in international relations from the University of Chicago, and an A.B. in government and French from Cornell University. I dedicate this article to my three daughters, Leila, Eva, and Serena, who have opened my heart, transformed my life for the better, and each day inspire me and teach me something new. My husband Charles deserves special recognition for tirelessly supporting my dreams and aspirations. I am grateful for my dear friend Michaela Golfinopoulos for her unwavering encouragement and support in all aspects of my life. I am thankful for the guidance of my advisor Dr. Maria Sturm, and Program Director Dr. Siegfried Fina, LLM Program in European and International Business Law, the University of Vienna, Austria. 1 Washington University Open Scholarship 2 WASHINGTON UNIVERSITY GLOBAL STUDIES LAW REVIEW [VOL. 19:1 Regulation (GDPR) provides EU consumers with enhanced data privacy protections and places stricter controls on genetic data. When EU consumers purchase online DTC genetic tests, they exercise two distinct fundamental rights—the right to data privacy and the right to informed medical consent. The article explores the intersection of these rights by examining relevant EU and other legislation, mainly the GDPR, the In Vitro Diagnostic Medical Devices Regulation, and the Council of Europe’s Oviedo Convention on Human Rights and Biomedicine. Additionally, the discussion highlights the challenges associated with protecting consumers’ autonomy and freedom to purchase online DTC genetic tests, while also safeguarding the bioethical standards of informed consent. The analysis explains that the online purchase of a DTC genetic test involves two distinct consent processes—one for data processing and the other for informed consent. These two consent processes are highly dependent upon each other to protect consumers adequately. Yet, the status quo reveals that informed consent is severely lacking in the purchase of online DTC genetic tests. This results in consumers’ loss of control over health and medical decisions, as well as over personal data. Consequently, as the DTC genetic testing industry continues to grow, there is a critical need for more robust online informed consent procedures. The article concludes that current EU regulations fail to sufficiently address the issues specific to online DTC genetic tests. Furthermore, an EU regulation on informed consent, in general, is not feasible. Thus, the article considers opportunities for the EU and its Member States, consumers, and industry to work together to both empower and protect consumers who purchase online DTC genetic tests. Finally, the article discusses methods for industry to improve the online informed consent process. ABSTRACT DEUTSCH Der Markt für Verbraucherprodukte im Bereich Genomik wächst rapide. Während derzeit die überwiegende Mehrheit der online direkt an VerbraucherInnen vermarkteten (Direct-to-Consumers, DTC) Gentests in den USA gekauft wird, ist der Erfolg des DTC-Geschäftsmodells vom Zugang zum weltweiten Markt abhängig. Unternehmen, welche DTC- Gentests anbieten, vermarkten und verkaufen ihre Dienste zunehmend auch in der Europäischen Union (EU), einer der größten Volkswirtschaften der Welt mit einer durchwegs digitalisierten, gebildeten und kaufkräftigen Bevölkerung. Seit Mai 2018 genießen europäische KonsumentInnen durch die europäische Datenschutz-Grundverordnung (DSGVO) erhöhten https://openscholarship.wustl.edu/law_globalstudies/vol19/iss1/5 2020] DIRECT-TO-CONSUMER GENETIC TESTING 3 Datenschutz und einen nun strenger regulierten Umgang mit genetischen Informationen. Erstehen KonsumentInnen in der EU DTC-Gentests online, machen sie von zwei verschiedenen Grundrechten Gebrauch: dem Recht auf Datenschutz und dem Recht auf Aufklärung vor der Einwilligung im Medizinbereich. Basierend auf einer Analyse relevanter EU- und anderer Gesetzgebung, darunter insbesondere der DSGVO, der In-vitro-Diagnostika-Verordnung und des Oviedo-Übereinkommens über Menschenrechte und Biomedizin des Europarats, untersucht die vorliegende Arbeit die Schnittstellen dieser beiden Rechte. Zudem wird die Herausforderung thematisiert, die Autonomie und Freiheit von KonsumentInnen, online DTC-Gentests zu erwerben, zu schützen und gleichzeitig die bioethischen Standards der informierten Einwilligung zu wahren. Die Analyse zeigt, dass der Online-Erwerb eines DTC-Gentests zwei unterschiedliche Einwilligungsprozesse umfasst: einerseits hinsichtlich der Datenverarbeitung, andererseits in Bezug auf die informierte Einwilligung. Für den ausreichenden Schutz von KonsumentInnen ist eine enge Interdependenz dieser beiden Einwilligungsprozesse erforderlich. Die informierte Einwilligung im Rahmen des Online-Kaufes eines DTC- Gentests ist in der Praxis jedoch hochgradig mangelhaft. Als Folge verlieren KonsumentInnen die Kontrolle über Entscheidungen hinsichtlich ihrer Gesundheit und medizinischer Verfahren wie auch in Bezug auf ihre persönlichen Daten. Angesichts des anhaltenden Wachstums des Marktes für DTC-Gentests besteht dringender Bedarf an robusten Online- Verfahren zur Einholung einer informierten Einwilligung. Die Arbeit zieht die Schlussfolgerung, dass die bestehenden EU-Verordnungen in Hinblick auf die spezifischen Problemstellungen bei Online-DTC-Gentests unzureichend sind. Gleichzeitig wäre aber eine EU-Verordnung zur informierten Einwilligung grundsätzlich nicht umsetzbar. Die Arbeit beleuchtet daher die Chancen der Kollaboration von EU, Mitgliedstaaten, KonsumentInnen und Anbietern mit dem Ziel, KonsumentInnen von online erworbenen DTC-Gentests zu stärken und zu schützen. Abschließend werden für Anbieter intendierte Methoden zur Verbesserung von Online-Verfahren zur Einholung einer informierten Einwilligung vorgestellt. Washington University Open Scholarship 4 WASHINGTON UNIVERSITY GLOBAL STUDIES LAW REVIEW [VOL. 19:1 LIST OF ABBREVIATIONS CJEU Court of Justice of the European Union DPO Data Protection Officer DoH Declaration of Helsinki DSM Digital Single Market DNA Deoxyribonucleic Acid DTC Direct-to-Consumer DTCGT Direct-to-Consumer Genetic Testting ENVI Environment, Public Health, Food and Safety ECtHR European Court of Human Rights EU European Union ESHG European Society of Human Genetics FDA United States’ Food and Drug Adminiistration GDPR General Data Protection Regulation GSK GlaxoSmithKline HGP Human Genome Project ICO Informed Consent Officer IVDD In Vitro Medical Devices Directive IVDR In Vitro Diagnostice Medical Devices Regulation MDCG Medical Device Coordination Group SDM Shared Decision-Making TFEU Treaty on the Functioning of the European Union U.S. United States of America WMA World Medical Association https://openscholarship.wustl.edu/law_globalstudies/vol19/iss1/5 2020] DIRECT-TO-CONSUMER GENETIC TESTING 5 I. INTRODUCTION ............................................................................... 6 II. OVERVIEW OF DIRECT-TO-CONSUMER (DTC) GENETIC TESTING COMPANIES AND ONLINES SALES IN THE EU ...................................... 8 III. ANALYSIS OF EU LEGISLATION: THE DEBATE SURROUNDING GENETIC TESTING, GENETIC COUNSELING AND INFORMED
Load more

Recommended publications
  • Crowd Sourced Genealogy and Direct-To-Consumer DNA Testing: Implications for the Jewish People* by Noah Slepkov
    Crowd Sourced Genealogy and Direct-to-Consumer DNA Testing: Implications for the Jewish People* By Noah Slepkov Introduction According to Bennett Greenspan, President and CEO of Family Tree DNA, a leading company Interest in genealogical mapping has dramatically in the field, some people even convert to increased in recent years. New online tools are Judaism after discovering the possibility of available for individuals to research their family Jewish ancestry in their DNA.3 By 2005 the history and collaborate with distant relatives New York Times observed that due to DNA to build family trees. Concurrently, advances in tests, “embraces of Judaism are growing more genetic research and computing technology have common in parts of the (American) Southwest” enabled direct-to-consumer (DTC) genealogical among Hispanics who believe they are mapping through DNA analysis at affordable descendants of Marranos.4 prices. Furthermore, Jewish genealogy, especially The possible existence of Jewish ancestry is Ashkenazi genealogy, has been and continues to among the many discoveries sometimes made by be the focus of many scientific studies aimed at individuals taking advantage of these advances in determining the history and genealogical origins genealogical mapping. Companies that provide of Ashkenazi Jewry. DTC DNA testing even boast that their product Few non-scientists can grasp the biology, can “infer whether or not and to what degree algorithmic calculations, and probabilistic nature you may have Jewish ancestry”1 or “discover your at the foundation of published genetic studies and Jewish ancestry.”2 consumer DNA tests. Still, as they gain widespread DNA test results have led many consumers into public attention, DTC DNA testing has the exploring their newly discovered Jewish roots.
    [Show full text]
  • Jewish Genealogy and the Current State of DNA Research
    November 2007 Bennett Greenspan Founder and CEO, Family Tree DNA Photos Courtesy of Jack Weinstein Jewish Genealogy and the Current State of DNA Research Our speaker introduced himself as 12 23 14 10 14 17 11 17 12 13 11 29, the twelve markers of his Y chromosome. Bennett Greenspan is an entrepreneur and a Genealogist since his teen years. This passion for genealogy and his entrepreneurial spirit led to the creation of Family Tree DNA in 1999. When the ancestral paper trail leads to a dead end, Family Tree DNA to the rescue. Although DNA testing cannot create a family tree or define familial relationships, this testing can verify that family relationships exist and provide probabilities of how many generations back where the two people tested had a common ancestor, but cannot tell you HOW you are related. Also, it is important to know that DNA testing can only determine relationships for your all male ancestral lineage (father’s father’s father … for men) and your all female ancestral lineage (mother’s mother’s mother … for both men and women). Or, put another way, the use of DNA testing can only verify relationships of 2 of 4 grandparents, 2 of 8 great grandparents, 2 of 16 great great grandparents, etc. Each of us inherits 46 chromosomes from our parents – 23 from our father and 23 from our mother. Twenty-two pairs are autosomal (non-sex chromosomes) and two – X and Y – determine sex (XY in men and XX in women). The Y chromosome passes from father to son with virtually no change.
    [Show full text]
  • The Use and Protection of Genomic Information by Companies, Databases, and Law Enforcement
    University of Nebraska - Lincoln DigitalCommons@University of Nebraska - Lincoln Honors Theses, University of Nebraska-Lincoln Honors Program Spring 3-16-2020 Terms of Service: The Use and Protection of Genomic Information by Companies, Databases, and Law Enforcement Sophia Kallas University of Nebraska - Lincoln Follow this and additional works at: https://digitalcommons.unl.edu/honorstheses Part of the Criminal Procedure Commons, Fourth Amendment Commons, Genetics Commons, Genomics Commons, and the Privacy Law Commons Kallas, Sophia, "Terms of Service: The Use and Protection of Genomic Information by Companies, Databases, and Law Enforcement" (2020). Honors Theses, University of Nebraska-Lincoln. 255. https://digitalcommons.unl.edu/honorstheses/255 This Thesis is brought to you for free and open access by the Honors Program at DigitalCommons@University of Nebraska - Lincoln. It has been accepted for inclusion in Honors Theses, University of Nebraska-Lincoln by an authorized administrator of DigitalCommons@University of Nebraska - Lincoln. TERMS OF SERVICE: THE USE AND PROTECTION OF GENOMIC INFORMATION BY COMPANIES, DATABASES, AND LAW ENFORCEMENT An Undergraduate Honors Thesis Submitted in partial fulfillment of University Honors Program Requirements University of Nebraska - Lincoln by Sophia Kallas, BS Forensic Science College of Agricultural Sciences and Natural Resources 16 March 2020 Faculty Mentors: Dr. Michael Adamowicz, PhD, Forensic Science Dr. Rebecca Roston, PhD, Biochemistry Dr. Brandi Sigmon, PhD, Plant Pathology Abstract Private genomic companies have become a popular trend in the last two decades by providing customers with information regarding their ancestry and health risks. However, the profiles received from these companies can also be uploaded to public databases for various purposes, including locating other family members.
    [Show full text]
  • 1 the Genochip: a New Tool for Genetic Anthropology Eran Elhaik
    The GenoChip: A New Tool for Genetic Anthropology Eran Elhaik1, Elliott Greenspan2, Sean Staats2, Thomas Krahn2, Chris Tyler-Smith3, Yali Xue3, Sergio Tofanelli4, Paolo Francalacci5, Francesco Cucca6, Luca Pagani3,7, Li Jin8, Hui Li8, Theodore G. Schurr9, Bennett Greenspan2, R. Spencer Wells10,* and the Genographic Consortium 1 Department of Mental Health, Johns Hopkins University Bloomberg School of Public Health, 615 N. Wolfe Street, Baltimore, MD 21205, USA 2 Family Tree DNA, Houston, TX 77008, USA 3 The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK 4 Department of Biology, University of Pisa, Italy 5 Department of Natural and Environmental Science, Evolutionary Genetics Lab, University of Sassari, Italy 6 National Research Council, Monserrato, Italy 7 Division of Biological Anthropology, University of Cambridge, UK 8 Fudan University, Shanghai, China 9 University of Pennsylvania, Philadelphia, PA 10 National Geographic Society, Washington DC, USA *Please address all correspondence to Spencer Wells at [email protected] 1 Abstract The Genographic Project is an international effort using genetic data to chart human migratory history. The project is non-profit and non-medical, and through its Legacy Fund supports locally led efforts to preserve indigenous and traditional cultures. While the first phase of the project was focused primarily on uniparentally-inherited markers on the Y-chromosome and mitochondrial DNA, the next is focusing on markers from across the entire genome to obtain a more complete understanding of human genetic variation. In this regard, genomic admixture is one of the most crucial tools that will help us to analyze the genetic makeup and shared history of human populations.
    [Show full text]
  • How Anne Wojcicki Took the Start-Up Firm from the Brink of Failure to Scientific Pre-Eminence
    THE RISE, FALL AND RISE AGAIN OF 23ANDME HOW ANNE WOJCICKI TOOK THE START-UP FIRM FROM THE BRINK OF FAILURE TO SCIENTIFIC PRE-EMINENCE. BY ERIKA CHECK HAYDEN 174 | NATURE | VOL 550 | 12 OCTOBER©2017 2017Mac millan Publishers Li mited, part of Spri nger Nature. All ri ghts reserved. ©2017 Mac millan Publishers Li mited, part of Spri nger Nature. All ri ghts reserved. FEATURE NEWS Anne Wojcicki founded the Alzheimer’s disease. Surfing a wave of positive news, the company has consumer-genetics firm since launched an advertising blitz to dramatically expand its customer 23andme in 2006 and aims base to 10 million people. to expand its customer 23andme has always been the most visible face of direct-to-consumer base to 10 million. genetic testing, and it is more formidable now than ever before. In September, the company announced that it had raised US$250 million: more than the total amount of capital raised by the company since its inception. Investors estimate that it is worth more than $1 billion, making it a ‘unicorn’ in Silicon Valley parlance — a rare and valuable thing to behold. But for scientists, 23andme’s real worth is in its data. With more than 2 million customers, the company hosts by far the largest collection of gene-linked health data anywhere. It has racked up 80 publications, signed more than 20 partnerships with pharmaceutical firms and started a therapeutics division of its own. “They have quietly become the largest genetic study the world has ever known,” says cardiologist Euan Ashley at Stanford University, California.
    [Show full text]
  • Why Is This $99 Home DNA Kit Causing Such an Uproar?
    http://genomemag.com/ Your Health Is Personal Why Is This $99 Home DNA Kit Causing Such an Uproar? 23andMe says it can provide you with valuable health information about your genes. The FDA says prove it. What the consumer genetic testing battle means for you. BY JOSEPH GUINTO Would you give someone you love a small plastic vial for her birthday and ask her to spit into it? Rob Abrams did. His wife, Caitlin, couldn’t have been happier. She liked it so much she gave Rob the same thing for Christmas. “It was,” Caitlin says, “the most nerdy gift I have ever given and received.” The package — a small tube, removable cap, and sealable spit funnel — was a genetic testing kit from California company 23andMe. The Abramses spent $299 on each kit in 2011. Once the couple mailed in their tubes, 23andMe tested their saliva for hundreds of genetic markers. The markers pointed toward clinically useless but nevertheless interesting ancestral information (look, Caitlin had 2.9 percent Neanderthal DNA!). They also pointed toward dozens of potential health risks. By comparing some of the couple’s DNA to a database of genetic indicators, the company said it could tell them whether they were at increased risk for a range of diseases, including Alzheimer’s disease, breast or prostate cancer, type 2 diabetes, hypertension, heroin addiction, and amyotrophic lateral sclerosis. And celiac disease, which Caitlin already knew she had. “I was most interested in possible inherited diseases,” she says. “I’d been diagnosed with celiac disease only a year or two prior, and given that my husband and I planned to have children, I thought it might be helpful to see if I was genetically predisposed to it.
    [Show full text]
  • Tracing Ancestral Lines in the 1700S Using DNA, Part One
    Tracing Ancestral Lines in the 1700s using DNA, Part One Tim Janzen, MD E-mail: [email protected] The science of genetics has changed dramatically in the past 60 years since James Watson and Francis Crick first discovered and described DNA in 1953. Genetics is increasingly being used to help people trace their family histories. The first major application of genetics to a family history puzzle was in 1998 when researchers established that a male Jefferson, either Thomas Jefferson or a close male relative, fathered at least one of Sally Hemings’ children. The first major company to utilize DNA for family history purposes was Family Tree DNA, which was founded by Bennett Greenspan in 2000. Initially the only types of testing that were done were Y chromosome and mitochondrial DNA testing. Over the past 10 years, autosomal DNA testing has moved into a prominent role in genetic genealogy. 23andMe was the first company to offer autosomal DNA testing for genealogical purposes. Their Relative Finder feature (now renamed as DNA Relatives) was quite popular when it was introduced in 2009. This feature allows people to discover genetic cousins they likely had never been in contact with previously. In 2010 Family Tree DNA introduced an autosomal DNA test called Family Finder which is a competing product to 23andMe’s test. In 2012 a third major autosomal DNA test called AncestryDNA was introduced by Ancestry.com. It has been quite popular due its low price and the availability of extensive pedigree charts for many of the people who have been tested by Ancestry.com.
    [Show full text]
  • Regulating Direct-To-Consumer Genetic and Genomic Information, 92 Neb
    Nebraska Law Review Volume 92 | Issue 4 Article 2 2014 Consuming Genomics: Regulating Direct-to- Consumer Genetic and Genomic Information Kayte Spector-Bagdady Presidential Commission for the Study of Bioethical Issues, [email protected] Elizabeth R. Pike Presidential Commission for the Study of Bioethical Issues, [email protected] Follow this and additional works at: https://digitalcommons.unl.edu/nlr Recommended Citation Kayte Spector-Bagdady and Elizabeth R. Pike, Consuming Genomics: Regulating Direct-to-Consumer Genetic and Genomic Information, 92 Neb. L. Rev. (2014) Available at: https://digitalcommons.unl.edu/nlr/vol92/iss4/2 This Article is brought to you for free and open access by the Law, College of at DigitalCommons@University of Nebraska - Lincoln. It has been accepted for inclusion in Nebraska Law Review by an authorized administrator of DigitalCommons@University of Nebraska - Lincoln. Kayte Spector-Bagdady, J.D., M. Bioethics and Elizabeth Pike, J.D., LL.M.* Consuming Genomics: Regulating Direct-to-Consumer Genetic and Genomic Information TABLE OF CONTENTS I. Introduction .......................................... 678 II. Access to One’s Own Genetic Information .............. 684 A. The Human Genome .............................. 684 B. Origins and Evolution of Genetic Testing .......... 686 1. From Discrete Genetic Tests to Large-Scale Testing and Genomic Sequencing .............. 687 2. From Clinician-Provided Testing to Direct-to- Consumer Access .............................. 689 C. Concerns Raised by Direct-to-Consumer Genetic Testing ........................................... 690 1. Investigation by the Government Accountability Office in 2006 ................................. 692 2. Reports of the Secretary’s Advisory Committee on Genetics, Health, and Society ............... 693 3. Investigation by the Government Accountability Office in 2010 ................................. 696 III. Regulating Direct-to-Consumer Genetic Testing .......
    [Show full text]
  • Y-DNA and Genealogy
    Y-DNA and Genealogy Peter Biggins, BY3164 Darien Library, Darien, CT October 6, 2018 Housekeeping ● Slides available on MGS website: mgs.darien.org/meetings.htm ● Contact Peter with any questions at: [email protected] Y-DNA: for Men Only? ● Yes – Only men can be tested – Handed down from father to son ● But – Many Y tests are bought by women – Y-DNA from a brother, father, uncle, nephew, male cousin Y Orientation ● Don't sweat the science ● Not cheap: think $449 per person ● Your place on the human tree ● Connect with ancient people and places ● Maybe help with genealogy – Now – In the future DNA 101: Types of DNA ● In the cell's nucleus – Autosomal DNA is in the 44 non-sex chromosomes – Y-chromosome DNA is in the one male chromosome ● In the cell's mitochondria – Mitochondrial DNA is found outside the cell's nucleus DNA 101: Mutations ● Billions of cells die everyday ● Cells constantly replicate by dividing ● Mutations occur, rarely, in replication ● These mutations are inherited ● A tree can be constructed from “Adam” to the present using these mutations, Y Topics ● Projects – Surname (last name) – Haplogroup (major SNP) ● Testing results – STR matches – SNP tree ● Testing strategy Surname Projects 2008 Email from Daniela I have visited your great website PetersPioneers and see that you have a lot of information on the Biggins surname. I am researching my Biggins family from Middlesex, England, and have formed a DNA project to help with this research. 2008 Email from FTDNA Thank you for ordering the Y-DNA67 test. Your sample kit number is 127469.
    [Show full text]
  • A New Tool for Genetic Anthropology
    University of Pennsylvania ScholarlyCommons Department of Anthropology Papers Department of Anthropology 5-9-2013 The GenoChip: A New Tool for Genetic Anthropology Eran Elhaik Elliott Greenspan Sean Staats Thomas Krahn Chris Tyler-Smith See next page for additional authors Follow this and additional works at: https://repository.upenn.edu/anthro_papers Part of the Biological and Physical Anthropology Commons, and the Genetic Structures Commons Recommended Citation Elhaik, E., Greenspan, E., Staats, S., Krahn, T., Tyler-Smith, C., Xue, Y., Tofanelli, S., Cucca, F., Pagani, L., Jin, L., Li, H., Schurr, T. G., Greenspan, B., Wells, R., & Genographic Consortium (2013). The GenoChip: A New Tool for Genetic Anthropology. Genome Biology and Evolution, 5 (5), 1021-1031. https://doi.org/10.1093/ gbe/evt066 This paper is posted at ScholarlyCommons. https://repository.upenn.edu/anthro_papers/27 For more information, please contact [email protected]. The GenoChip: A New Tool for Genetic Anthropology Abstract The Genographic Project is an international effort aimed at charting human migratory history. The project is nonprofit and non-medical, and, through its Legacy Fund, supports locally led efforts to preserve indigenous and traditional cultures. Although the first phase of the project was focused on uniparentally inherited markers on the Y-chromosome and mitochondrial DNA (mtDNA), the current phase focuses on markers from across the entire genome to obtain a more complete understanding of human genetic variation. Although many commercial arrays exist for genome-wide single-nucleotide polymorphism (SNP) genotyping, they were designed for medical genetic studies and contain medically related markers that are inappropriate for global population genetic studies.
    [Show full text]
  • An Interview with Anne Wojcicki
    INTERVIEW Your Data to Explore: An Interview with Anne Wojcicki Jane Gitschier* Departments of Medicine and Pediatrics and Institute for Human Genetics, University of California San Francisco, San Francisco, California, United States of America * [email protected] How can we not be intrigued by secrets held within our genomes? 23andMe erupted onto the biotech landscape in 2006 to satisfy that curiosity with its promise of genetics fun. For a little bit of spit and a few hundred dollars, we could check out genetic predictions for traits we already know we have—perhaps blonde hair or blue eyes—as well as susceptibilities for diseases we may have yet to develop, such as cancer or diabetes. While other small companies took on sober analysis of disease traits and data delivery back to the physician or patient with genetic counseling, 23andMe eschewed the traditional paternalism of American medicine and espoused direct-to-consumer testing. Added to that moxie was a snappy high-tech pedigree. The company was founded by Anne Wojcicki, Linda Avey, and Paul Cusenza and bankrolled in some measure by Google’s Sergey Brin, with whom Wojcicki has two children but from whom she is now divorced. I have to admit that I have been rooting for 23andMe since its inception (full disclosure: I have no financial link to this company, but I have used their service). I like its efficiency and its premise that individuals, with today’s technology, should have full access to their own genetic information, despite the caveat of sometimes challenging interpretation. I also like the idea of people contributing directly to human genetics research online, something 23andMe incorpo- rated into their model right from the beginning.
    [Show full text]
  • Operationalising Forensic Genetic Genealogy in an Australian Context
    Preprints (www.preprints.org) | NOT PEER-REVIEWED | Posted: 1 August 2020 Operationalising forensic genetic genealogy in an Australian context Nathan Scudder a, d, e, Runa Daniel b, e, Jennifer Raymond c, Alison Sears c a Australian Federal Police, GPO Box 401, Canberra, Australia b Office of the Chief Forensic Scientist, Victoria Police Forensic Services Department, Macleod, Victoria 3085, Australia c Forensic Evidence and Technical Services, NSW Police Force, NSW 2010, Australia d Centre for Forensic Science, School of Mathematical and Physical Sciences, Faculty of Science, University of Technology Sydney, Australia e National Centre for Forensic Studies, Faculty of Science and Technology, University of Canberra, Australia I.ABSTRACT Scientific, ethical, privacy, security and legal considerations arise as the application of forensic Forensic genetic genealogy, a technique leveraging genetic genealogy (FGG) continues to advance. new DNA capabilities and public genetic databases This article will explore those considerations in an to identify suspects, raises specific considerations in Australian legal and scientific context. In addition, a law enforcement context. Use of this technique the article will explore how these new capabilities requires consideration of its scientific and technical may sit within existing forensic and investigative limitations, including the composition of current processes. In Section XII a checklist is provided online datasets, and consideration of its scientific outlining items for consideration by any agency validity. Additionally, forensic genetic genealogy seeking to implement this technique within needs to be considered in the relevant legal context casework. to determine the best way in which to make use of Direct-to-consumer (DTC) DNA testing has been its potential to generate investigative leads while offered to consumers for several decades, but high minimising its impact on individual privacy.
    [Show full text]