On June 9 California sent letters to 13 genetic-testing companies ordering them to “cease and desist performing genetic testing without licensure or physician order.” Some of the companies have since stopped offering direct-to-consumer tests to Californians, while others insist that they are already in compliance with the law and continue to operate in the state. New York State similarly warned companies this spring that they need licenses to accept DNA samples from the state’s residents. (The Center summarizes the companies’ responses here.)

GPPC has long advocated for comprehensive federal oversight of genetic testing, and disparate state laws and state enforcement actions are clearly consequences of the void at the federal level. The confusion will only grow if and when more states attempt to fill the role the federal government has shirked – a situation that will benefit no one. As California Department of Public Health official Karen Nickel said in a conference call with members of the Clinical Laboratories Advisory Committee, “We’re looking for some kind of federal action.” Similarly, DNATraits founding partner Bennett Greenspan told GenomeWeb Daily News, “I’d rather there be a federal solution than a state solution, just as a matter of efficiency.” For 50 states to each create and enforce their own potentially disparate regulations for genetic tests, and for companies to comply with them, would indeed create massive inefficiencies. State resources would be diverted from other programs, and innovation in the genetic testing industry could be stifled as labs struggle to discern and comply with variable state laws and regulations.

Several companies recently announced plans to team up to devise guidelines for the genetic-testing industry. These standards will tap into considerable scientific and technical expertise, and potentially will be flexible and readily updated as the science progresses. However, they will be voluntary, leaving bad actors free to continue offering deceptively-marketed, inaccurate, or unhelpful tests. Furthermore, having genetic testing companies devise the guidelines creates a potential conflict of interest and may not bolster consumer confidence.

At the same June roundtable where the guidelines plan was announced, a representative from the Federal Trade Commission (FTC) acknowledged that the FTC has the authority to prohibit direct-to-consumer genetic-testing companies from making misleading claims, and said the agency is investigating two such companies. Meantime, some companies are still making the kinds of patently deceptive claims that in 2006 led Sen. Smith to label their products “snake oil.”

We’ve said it before, and we’ll say it again: the most sensible, effective way to ensure the reliability of genetic tests is for the federal government to create and enforce stronger regulations for genetic tests and the laboratories that perform them. – Kathy Hudson, director, Genetics & Public Policy Center

Factsheet – Summary of New York and California Correspondence with Health-Related
Direct-to-Consumer Genetic Testing Businesses

Issue brief – Direct-to-consumer genetic testing: empowering or endangering the public?

Chart – Direct-to-consumer genetic testing companies

Article – Advisory committee recommends improvements to genetic testing oversight

Years of effort on the part of activists, members of Congress, and their staff members culminated in passage of the Genetic Information Nondiscrimination Act (GINA) on May 21, 2008. "After a very long wait, Americans can now be confident that their genetic information cannot be used by health insurers or employers in harmful or hurtful ways," said Center Director Kathy Hudson in a statement on the bill’s passage through the Senate. "Our challenge now is to make sure that doctors and patients are aware of these new protections so that fear of discrimination never again stands in the way of a decision to take a genetic test that could save a life."

To address that need, the Center has now launched “Project GINA” to disseminate information to a range of audiences on GINA’s protections and requirements.

Following GINA’s passage, the Center generated a widely-distributed fact sheet summarizing GINA’s provisions. More recently, the Center co-hosted with the Bureau of National Affairs the first of a series of webinars highlighting what GINA does and does not do. Additionally, Hudson co-authored an article on GINA in the New England Journal of Medicine. With the help of Jeremy Gruber of the National Workrights Institute and Karen Pollitz of the Georgetown Health Policy Institute, the Center will continue to take the lead in disseminating information on GINA; developing informational materials for patients, clinicians, health insurers, employers, researchers, and ethics boards; and providing assistance to the agencies charged with implementing GINA.

The Center soon will launch a dedicated Web site on GINA issues. In addition to providing information about the new protections afforded under the law, the new site will contain updates on how federal and state regulators are implementing the law. Members of the public will have the ability to email Center staff with questions, which will be compiled into a frequently-asked-questions Web page. This one-stop shop on GINA will be available beginning in September. For now, the Center’s GINA resources can be found under the “What’s Happening” heading on our homepage. – Katherine Groff

Issue brief – The Genetic Information Nondiscrimination Act

At its June 17 annual meeting, the American Medical Association (AMA), the largest physician group in the United States, adopted policy recommendations opposing direct-to-consumer (DTC) genetic testing. The recommendations state that a health care professional should be involved in the genetic-testing process, and encourages individuals interested in obtaining genetic testing to contact a health care professional.

Prior to these recommendations, the AMA had more general policies discouraging DTC genetic testing. At its 2007 annual meeting, the American College of Obstetricians and Gynecologists’ Massachusetts Delegation introduced a resolution asking the AMA to study the issue. AMA members voted to adopt the resolution. Subsequently, AMA staff reviewed the state of DTC testing, and presented a report with recommendations at the AMA annual meeting. The new recommendations note that DTC genetic testing is available, and make it clear that the AMA believes that it is necessary for genetic tests to be carried out under the supervision of a health care professional. "Encouraging all genetic testing to require supervision by a qualified health care professional, ensures they are being properly used and the results are being accurately interpreted and understood by patients," said AMA board member William Hazel.

The recommendations include three directives for the AMA: to work with other organizations to develop criteria for advertising DTC genetic testing, to encourage the U.S. Federal Trade Commission to vet the accuracy of DTC advertisements, and to educate physicians on what genetic tests are available so that they can counsel their patients on the limitations of the tests.

The AMA’s recommendations follow the American College of Medical Genetics’ (ACMG) and the American Society for Human Genetics’ (ASHG) statements on DTC genetic testing. ACMG recommended that a genetics expert be involved in ordering and interpreting genetic tests, consumers be made fully aware of the capabilities of genetic tests, the scientific evidence on which tests are based be available and stated so that the consumer can understand it, the laboratories conducting the tests be accredited, and consumers be made aware of privacy issues associated with DTC genetic testing.

ASHG’s January 2007 recommendations, co-authored by GPPC’s Kathy Hudson and Gail Javitt, recognize that some tests can be appropriately offered directly to consumers, provided that specific safeguards are in place to ensure test quality and adequate information disclosure. For example, ASHG states that companies offering DTC genetic testing should inform consumers of the benefits and limitations of the tests, the scientific evidence supporting the claims being made about the test, any risks to the consumer, and the company’s certification status and privacy policies. ASHG further recommends that professional organizations educate their members so that they can counsel patients about the benefits and limitations of DTC testing. Finally, ASHG recommends that government agencies take specific actions to ensure the analytic and clinical validity of genetic tests offered DTC, and the truthfulness of claims made about the tests. – Katherine Groff

Issue brief - Direct-to-consumer genetic testing: empowering or endangering the public?

GenePOPS event summary - The Molecular Full Monty: Personal Genomes, Personal Health

On July 14 the House of Representatives voted to reauthorize the Debbie Smith DNA Backlog Grant Program (HR 5057). The original Debbie Smith Act of 2004, introduced by Rep. Maloney (D-NY), allocated funds to process backlogged DNA evidence, primarily from rape kits, allowing for the potential resolution of cases in which no suspect has been identified. The reauthorization bill, co-sponsored by Rep. Conyers (D-MI) and Rep. Smith (R-TX), would extend the funding to 2014.

Two amendments to the bill have sparked controversy, and led some to argue that the original intent of the bill will be undermined. One amendment, introduced by Rep. Weiner (D-NY), requires states to collect DNA samples from all convicted felons and include their profiles in state forensic DNA databanks as a condition for receiving funding under the grant program. All states currently collect samples from at least some convicted felons; however, some limit collection to violent or sexual offenders. These states no longer would be eligible for funding unless they expand their databases.

The second amendment, introduced by Rep. Schiff (D-CA), provides financial incentives to states that collect DNA samples and bank DNA profiles from arrested individuals. Such states would be eligible for additional funding. Currently, 12 states require collection from arrestees for some crimes, and thus would benefit from this amendment.

Opponents of the amendments argue that they are contrary to the intent of the original act, which sought to increase the capacity of state crime laboratories to analyze DNA from crime scene evidence in a timely manner, and to allow DNA analysis of evidence from older cases. They argue that expanding DNA collection to all felons, and incentivizing collection from arrestees, will shift laboratory resources away from processing DNA samples from backlogged crime scene evidence and increase the number of DNA samples that need processing, thereby increasing the burden on laboratories. Opponents also argue that the amendments threaten the autonomy of states in selecting whom? to include in their databases. Finally, they argue that incentivizing expansion to include arrestees will increase the number of innocent people whose DNA is held by the government, with its attendant risk of privacy violations, and will penalize states that do not expand their databases by limiting their eligibility for funding.

Supporters of the amendments counter that a comprehensive national database will increase the likelihood of a match in cases with no suspect. They also say that the amendments will provide increased funding for DNA processing, training, and technology development, which will ensure that cases are processed quickly and accurately.

It is unclear if or when the Senate will vote on the reauthorization bill. – Sara Katsanis

The Center has posted a new issue brief, “DNA paternity testing,” on its site. In addition, a video of the Center’s June Genetics Perspectives on Policy Seminar, “The Molecular Full Monty: Personal Genomes, Personal Health,” is now available on the site.

Victor Almon McKusick, M.D., Johns Hopkins University Professor of Medical Genetics since 1985, namesake of the McKusick-Nathans Institute of Genetic Medicine at the Johns Hopkins University School of Medicine, and a towering international figure in genetics research, diagnosis, and treatment, died July 22. He was 86.

“To the world genetics community, Victor has been rightfully honored as the founding father of medical genetics as a specialty, as well as a strong mentor by generations of students, trainees and faculty,” said Edward D. Miller, Dean/CEO of Johns Hopkins Medicine, in a statement.

McKusick entered medical school at Johns Hopkins in 1943, and later served as Osler Professor and chairman of the Department of Medicine and physician in chief of The Johns Hopkins Hospital from 1973 to 1985. In 1957 he founded the Division of Medical Genetics, becoming a full professor in the Department of Medicine in 1960. In 1966 McKusick created the first edition of Mendelian Inheritance in Man (MIM), an ever-enlarging compilation of information on inherited disease genes. MIM evolved into OMIM, Online Mendelian Inheritance in Man, a searchable online database of disease gene locations and characteristics used by physicians and researchers worldwide.

Aravinda Chakravarti, who served as the inaugural director of the McKusick - Nathans Institute of Genetic Medicine, remembers McKusick’s advice as being “always on target and motivated by science, never by university or other politics.”

Joanna Amberger, who worked with McKusick on MIM and OMIM for more than 20 years, said, “he was a gracious person, he was kind without being effusive, so there was a certain genuineness about him.” She also admired his approach to work. “I’ve never met anybody who worked harder than he did. It didn’t matter what he was doing, somehow he made it seem like it was fun. Not haha fun, but fulfilling fun,” Ambrose explained. “He also had an amazing tolerance and patience for smart, opinionated people. You never knew who was going to walk in the door and what kind of conversation would take off, and that was pretty cool.”

Carol Bocchini, who began working on MIM in 1979 and now serves as a senior author and the editorial director for the database, described working for McKusick as challenging. “He had an incredible work ethic that he expected you to follow, and he didn’t do it by demanding it, he led by example. His excitement about developments in the field of genetics was infectious and you really enjoyed working hard along with him,” she said. – Shawna Williams

A Genetics Pioneer Who Mapped the Inner World (Washington Post, 7/24)

Victor McKusick, 86, Dies; Medical Genetics Pioneer (New York Times, 7/24)

"There's been very little action on the federal front, so it's not surprising that we would see questions being raised by some states." – Gail Javitt in a Boston Globe article on California’s cease-and-desist warning against 13 genetic testing firms, 6/26

“Science history may remember him more for changing how science is done. Our nation was very fortunate to have a science leader who so skillfully combines both exceptional political acumen and great moral integrity.” – Kathy Hudson in an Associated Press article on the departure of Francis Collins from the National Institutes of Health, 6/28

“I think genetics will continue to play a big part in assisted reproductive technology. The bigger question is: what will people be testing for? There's speculation that people will have designer babies, but I don't think the data are there to support that… I think you'll end up with a lot of information available to parents and it's less obvious how useful that information will be and how many parents will want it.” – Susannah Baruch in a Nature article on the future of reproductive medicine, 7/16