Regulation of genetic tests
Regulation of genetic tests varies around the world.
Laws in 2004 and 2011 restricted the circumstances under which genetic tests may be legally performed within France (but do not forbid French residents from purchasing personal genetic tests from companies located outside of France). As shown below, the laws are general, leaving them relatively open to interpretation, and do not explicitly mention direct-to-consumer genetic tests.
On 6 August 2004, the French parliament passed Loi n°. 2004-800 rélative à la bioéthique. On 14 March 2011, it passed Loi n°. 2011-267 d'orientation et de programmation pour la performance de la sécurité intérieure. Both of these laws modified the Civil Code (Book I, Title I, Chapter III: Examination of the genetic characteristics of a person and of the identification of a person by his or her genetic fingerprints). The relevant legal articles include the following:
Article 16-10: "L'examen des caractéristiques génétiques d'une personne ne peut être entrepris qu'à des fins médicales ou de recherche scientifique. Le consentement exprès de la personne doit être recueilli par écrit préalablement à la réalisation de l'examen, après qu'elle a été dûment informée de sa nature et de sa finalité." (Translation: "Examination of a person's genetic characteristics may be performed only for medical or scientific research purposes. The express written approval of the person must be obtained before the test is performed, after he or she has been duly informed about its nature and purpose.")
Article 16-11: "L'identification d'une personne par ses empreintes génétiques ne peut être recherchée que : 1° Dans le cadre de mesures d'enquête ou d'instruction diligentées lors d'une procédure judiciaire ; 2° A des fins médicales ou de recherche scientifique ; 3° Aux fins d'établir, lorsqu'elle est inconnue, l'identité de personnes décédées." (Translation: "Identification of a person by his or her genetic fingerprints may be sought only (1) in the framework of investigations ordered during a legal proceeding, (2) for medical or scientific research purposes, or (3) to determine, when it is unknown, the identity of deceased persons.")
Article 16-12: "Sont seules habilitées à procéder à des identifications par empreintes génétiques les personnes ayant fait l'objet d'un agrément dans des conditions fixées par décret en Conseil d'Etat." (Translation: "Only persons approved under conditions fixed by decree by the Council of State are authorized to perform identification via genetic fingerprints.")
In April 2009 the German parliament approved the Human Genetic Examination Act which effectively banned all direct-to-consumer (DTC) genetic testing. Under the law, genetic tests can only be carried out by a doctor and require the full consent of all parties involved. That makes it illegal to conduct anonymous paternity tests and anyone found in violation could be fined up to euro 5,000 Euros ($6,525). The law further limits the use of genetic testing on fetuses for purely medical purposes, meaning parents are prohibited from using it to determine the sex of their unborn children. In addition it prohibits the use of genetic testing for indications of a predisposition to illnesses that appear only later in life, such as breast cancer or diseases of the nervous system. The law also addresses dissemination of information obtained through genetic testing, including preventing employers and health insurance companies from demanding an employee or potential client undergo a genetic test or accessing results from previous tests. The following articles are also of interest:
- Ban on direct-to-consumer genetic tests in Germany Article by Dr Caroline Wright on the PHG Foundation website, 28 April 2009
- Genetic Exceptionalism and Paternalism Themes in new German Legislation A commentary from the Genomics Law Report
The biopharmaceutical company deCODE genetics, Inc. was founded in 1996 in Reykjavík, Iceland. The company's aim is to identify human genes associated with common diseases using population studies.
Advertising and marketing
In the UK advertising of all products including DTC tests are covered by the Advertising Standards Authority The ASA is an "independent regulator of advertising across all media, including TV, internet, sales promotions and direct marketing". The authority's role is to ensure ads are "legal, decent, honest and truthful by applying the Advertising Codes". Marketing is overseen by the Office of Fair Trading. The OFT is an independent professional organisation, which "plays a leading role in promoting and protecting consumer interests throughout the UK, while ensuring that businesses are fair and competitive".
The Advisory Committee on Genetic Testing (ACGT) was established as a non-statutory advisory committee in 1996, as part of the response to the 1995 Select Committee on Science and Technology report on Human Genetics. ACGT considered and advised UK Health Ministers on developments in genetic testing, the ethical, social and scientific aspects of testing and established requirements to be met by suppliers of genetic testing services. It considered the use, or potential use, of tests both within clinical practice, and those which are supplied direct to the public. ACGT's role and function were subsumed into the Human Genetics Commission when the latter was established in December 1999, following a comprehensive review in May 1999 by the UK Government of the regulatory and advisory framework for biotechnology. An archive of the ACGT's publications can be found online here.
The Human Genetics Commission was established. The HGC is the UK Government's advisory body on new developments in human genetics and how they impact on individual lives. The Commission is made up of twenty-one members including experts in genetics, ethics, law and consumer affairs. The HGC also have a Consultative Panel of people who have direct experience of living with genetic disorders and who act as a sounding board for their reports and recommendations.
The Human Genetics Commission published a report entitled "Genes direct: Ensuring the effective oversight of genetic tests supplied directly to the public". The consultation papers and the pdf file of the published report can be seen here
The Human Tissue Act became law in England, Wales and Northern Ireland. The act made the "non-consensual analysis" of the DNA of a living person illegal. Scotland is covered by separate legislation. The Human Tissue (Scotland) Act 2006 became law in 2006.
The Human Genetics Commission published a report entitled "More Genes Direct", a follow-up to its 2003 report "Genes Direct: A report on developments in the availability, marketing and regulation of genetic tests supplied directly to the public. The full report can be downloaded here.
7 July 2009
The Science and Technology Committee of the House of Lords published a lengthy report on genomic medicine. Links to the official press release and the pdf file of the full 127-page report can be seen here.
The following newspaper articles and blog postings are also of interest:
- NHS not ready to take advantage of breakthroughs in genetic sequencing by Mark Henderson, The Times, 7 July 2009
- We must make it possible for genome to be harnessed by medicine by Mark Henderson, The Times, 7 July 2009
- Genomic medicine, the NHS, and the case against a democratic House of Lords Blog posting on The Times blog Eureka Zone by Mark Henderson, 7 July 2009
- U.K. House of Lords Issues Report on Genomic Medicine A commentary and US perspective from the Genomics Law Report
- UK House of Lords report on genomic medicine: implications for DTC genetic testing A report from the Genetic Future blog
The Human Genetics Commission published its "Common Framework of Principles" for direct-to-consumer genetic testing services. The Principles have been developed by a collaborative working group comprising representatives from the genetic testing industry, experts in regulation, clinical and molecular genetics and genetic counselling, representatives from groups that support individuals with genetic conditions and the UK Department of Health. The HGC is not a regulatory body. It hopes that these Principles will lead to the development of codes of practice that take account of existing regulatory structures and may identify where there is a need for additional regulation or legislation.
The initial consultation was held from 8 September 2009 to 6 December 2009. The working papers and the consultation papers are available on the HGC's website.
12 October 2010
The Nuffield Council on Bioethics published a report entitled Medical profiling and online medicine: the ethics of personalised healthcare in a consumer age. The Powerpoint presentations from the launch seminar can be found here.
United States of America
EGAPP (Evaluation of Genomic Applications in Practice and Prevention) was launched in 2004 by the National Office of Public Health Genomics (NOPHG) at the Centers for Disease Control and Prevention (CDC). The goal of EGAPP is to establish a systematic, evidence-based process to assess the effectiveness of selected genetic tests that are in transition from research to clinical and public health practice. EGAPP is an independent, multidisciplinary panel which "prioritizes and selects tests, reviews CDC-commissioned evidence reports and other contextual factors, highlights critical knowledge gaps, and provides guidance on appropriate use of genetic tests in specific clinical scenarios".
Anne Wojcicki and Linda Avey founded the Californian-based personal genomics company 23andMe. In testimony to the Committee on Energy and Commerce in July 2010 Ashley Gould, counsel for 23andMe, stated: "23andMe met with the FDA even before we launched our service, explained the full scope of our proposed services, and were encouraged to continue with our service by the then FDA commissioner" [Andrew C. von Eschenbach].
The Federal Trade Commission (FTC) asserted that it has jurisdiction over genetic testing advertising. In July 2006 the FTC issued a consumer alert warning consumers to be skeptical of claims made by direct-to-consumer (DTC) test providers and to discuss test results with a health care provider. Read the "FTC publication".
July 27 2006
The Senate held a hearing before the Special Committee on Aging on At Home Dna Tests: Marketing Scam Or Medical Breakthrough.
The Federal Food, Drug, and Cosmetic Act (FD&C Act) granted the Food and Drug Administration (FDA) authority to regulate medical devices. A medical device was defined to include an "article" that is "intended for use in the diagnosis of disease or other conditions, or in the cure, mitigation, treatment, or prevention of disease."
FDA released a draft guidance document addressing a subset of laboratory-developed tests (LDTs) that the agency termed in vitro diagnostic multivariate index assays (IVDMIAs). These tests use laboratory data and an algorithm (analytical tool) to generate a result for the purpose of diagnosing, treating, or preventing disease. Examples of IVDMIA tests include those used to diagnose and guide treatment decisions for breast cancer, prostate cancer recurrence, cardiovascular disease, and Alzheimer disease. The draft guidance stated that FDA considered IVDMIAs to be medical devices and that FDA would require them to undergo premarket review before being marketed.
Two further personal genomics companies were set up in the US in 2007: Navigenics based in Foster City, California, and Knome, based in Cambridge, Massachusetts. Knome was reportedly the first company to comprehensively sequence and analyze the genome of a private consumer. Navigenics claim that their "discussions with the FDA began even before our service first launched".
FDA issued a revised draft guidance document on IVDMIAs.
12 March 2008
The Congressional Research Service prepared a report for members and committees of the United States Congress on "Genetic Ancestry Testing". From the summary, "This report describes genetic ancestry testing, outlines the basic scientific limitations of the testing currently, and provides an overview of the policy issues this testing may raise."
Navigenics announced on 8 April that the company will develop a set of industry standards for consumer genomic testing services. Company acts to 'ensure the integrity of this critical step toward personalized health care'
The Advisory Committee on Genetics, Health, and Society compiled a report for the Secretary of the Department of Human Health and Human Services entitled System of Oversight of Genetic Testing: A Response to the Charge of the Secretary of Health and Human Services
San Francisco Chronicle article regarding the California Department of Public Health's 'cease and desist' letters sent to thirteen Direct-to-Consumer DNA companies. State off course on 'personal genomics'
18 March 2010
The National Institutes of Health announced that it is creating a public database that researchers, consumers, health care providers, and others can search for information submitted voluntarily by genetic test providers. The Genetic Testing Registry (GTR) aims to enhance access to information about the availability, validity, and usefulness of genetic tests.
Currently, more than 1,600 genetic tests are available to patients and consumers, but there is no single public resource that provides detailed information about them. GTR is intended to fill that gap.
10 June 2010
The FDA sent letters to five personal genomics companies: deCODE genetics, Illumina, Knome, Navigenics and Pathway Genomics. The companies' reports were considered to "meet the definition of a device as that term is defined in section 201(h) of the Federal Food Drug and Cosmetic Act". The FDA went on to say: "We have conducted a review of our files, and have been unable to identify any Food and Drug Administration (FDA) clearance or approval number for the Genetic Health Report. We request that you provide us with the FDA clearance or approval number for the Genetic Health Report. If you do not believe that you are required to obtain FDA clearance or approval for the Genetic Health Report, please provide us with the basis for that determination." The companies were asked to respond within 15 days.
24 June 2010
The personal genomics company 23andMe wrote a letter to Dr. Margaret Hamburg, Commissioner of the Food and Drug Administration, and Dr. Francis Collins, Director of the National Institutes of Health, asking for their respective agencies’ help in developing broadly applicable standards and guidelines to achieve consensus regarding how to provide information on genetic test results and risk estimates.
19 July 2010
The FDA sent letters to a further fourteen DTC testing companies whose reports they considered met "the definition of a device as that term is defined in section 201 (h) of the Federal Food Drug and Cosmetic Act".
19 and 20 July 2010
On 19 and 20 July 2010 the Food and Drug Administration held a public meeting on the oversight of laboratory developed tests (LDTs). The full program of the meeting and the live webcast can be seen here ISOGG Director Katherine Borges gave a presentation at the meeting. The full text of her speech has been published on the Huffington Post website.
22 July 2010
On 22 July 2010 the Committee on Energy and Commerce held a "Hearing on “Direct-To-Consumer Genetic Testing and the Consequences to the Public Health”. The documents relating to the meeting and the webcast can be seen on the Committee's website. The following blogs provided reviews and commentary on the day's events:
- From Gulf oil to snake oil: Congress takes aim at DTC genetic testing A thorough report from Dan Vorhaus of the Genomics Law Report
- GAO Studies Science Non-Scientifically The response from 23andMe
- FDA grapples with regulation of DTC genetic tests by Dr Caroline Wright, PHG Foundation
- A sad day for personal genomics A personal view from Daniel MacArthur on the Genomes Unzipped blog
- DTC, FDA, GAO…2006 and all that A personal view from Keith Grimaldi of Eurogene
- Can't stop killing you A personal view from Misha Angrist, one of the subjects in the Personal Genome Project
- A Genetic Testing Dupe? The government says I am being misled by useless information about my genes. I disagree Ronald Bailey, Reason.com, 27 July 2010
- Working with regulators - the road ahead The response from Navigenics
- Moving forward after recent developments The initial response from Pathway Genomics
- The official response from Pathway Genomics
- Protecting Consumers From Their Own Genetic Data Will Come at a Cost A personal view from Daniel MacArthur, Xconomy, 28 July 2010
- In wake of FDA offensive, genomics entrepreneurs look overseas
- FDA states cost 'not considered in any of our reviews'
Are you concerned about regulation? Visit our page What you can do.
- Testimony of Ashley Gould', Committee on Energy and Commerce, Hearing on "Direct-To-Consumer Genetic Testing and the Consequences to the Public Health".
- Working with regulators — the road ahead, The Navigator, the official Navigenics blog, 27 July 2010
General articles on regulation in the European or worldwide context
- Quality & Safety in Genetic Testing: An Emerging Concern World Health Organization report
- Grimaldi KA, Look MP, Scioli GA et al. Personal genetics: regulatory framework in Europe from a service provider's perspective. European Journal of Human Genetics 2011 19(4): 382–388.
- Statement of the European Society of Human Genetics on direct-to-consumer genetic testing for health-related purposes. European Journal of Human Genetics 18, 1271-1273, December 2010.
- Gail H. Javitt, Erica Stanley and Kathy Hudson. Direct-to-consumer genetic tests, government oversight, and the first amendment: what the government can (and can't) do to protect the public's health An article by in the Oklahoma Law Review, Volume 57, Summer 2004, Number 2.
- Stuart Hogarth. Myths, Misconceptions and Myopia: Searching for Clarity in the Debate about the Regulation of Consumer Genetics Public Health Genomics 2010; 13: 322–326.
- Dan Vorhaus The Past, Present and Future of DTC Genetic Testing Regulation
- Direct-to-Consumer Genetic Testing: Summary of a Workshop. Mary Fraker and Anne-Marie Mazza, Rapporteurs; Committee on Science, Technology, and Law; Forum on Drug Discovery: Roundtable on Translating Genomic-Based Research for Health; National Research Council and Institute of Medicine. A thorough review of all the issues relating to direct-to-consumer testing. The report includes a section on the "Current legislative and regulatory framework in the United States" and an appendix on "Regulation of direct-to-consumer genetic testing outside the United States.
- Pascal Borry, Rachel E van Hellemondt, Dominique Sprumont, Camilla Fittipaldi Duarte Jales, Emmanuelle Rial-Sebbag, Tade Matthias Spranger, Liam Curren, Jane Kaye, Herman Nys and Heidi Howard. 'Legislation on direct-to-consumer genetic testing in seven European countries'. European Journal of Human Genetics 20, 715-721 (July 2012) | doi:10.1038/ejhg.2011.278.
- Effy Vayena and Barbara Prainsack. Regulating genomics: time for a broader vision. Editorial. Science Translational Medicine 14 August 2013: Vol. 5, Issue 198, p. 198ed12.