Questions Remain; Some Rules Should Be Clear

Francis S. Collins is the director of the National Institutes of Health and was formerly the director of the National Human Genome Research Institute.

UPDATED APRIL 14, 2014, 9:09 PM

Today, obtaining genetic information is increasingly affordable and clinically meaningful. Genetic and genomic tests can be used to detect and monitor disease, assess risk or inform the selection of drugs. There are more than 14,000 genetic tests for over 4,000 diseases and conditions in the National Institute of Health’s Genetic Testing Registry. Pharmacogenetic information is included in the labels of more than 120 drugs approved by the Food and Drug Administration. DNA-based newborn-screening programs are expanding, and testing is being recommended by professional societies and the U.S. Preventative Services Task Force for an ever larger number of patients.

Even without barring insurers from seeing genetic tests, such tests should not be demanded of anyone. And research data must be kept private.

Take for example the case of colon cancer, where individuals with a strong family history can be tested for mutations in genes like MLH1 and MSH2, and if found positive can take advantage of life-saving annual colonoscopy, starting in their third decade. Last fall, the Food and Drug Administration provided the first-ever marketing authorization for a genomic sequencer, laying the groundwork for an ever-growing use of genetic information in clinical care.

As genetic information – and even entire genome sequences – proliferate in electronic medical records and research databases, so too do concerns about personal privacy and who is allowed access to this information. While the Genetic Information Nondiscrimination Act provides substantial protections against the misuse of genetic information by health insurers and employers, it is not a panacea.

We must not become complacent. Technology is evolving at an astounding rate and clinical research and clinical care are more closely connected than ever, highlighting the tension between data sharing and respect for personal privacy.

Should life, disability and long-term care providers and insurers have access to genetic information that may foretell future costly diseases or conditions? If individuals have this revealing information about their own futures, will they be more likely to purchase insurance and distort the system through adverse selection? These are important questions that need public dialogue and consideration. But there should be some golden rules for genetic privacy.

The decision to have a genetic/genomic test resides with the owner of the genome – or in the case of children, with the parents. Except in rare circumstances, the decision to obtain genetic information should be made knowingly and freely. Insurers and others should not be able to demand such testing as a condition for services.

Unconsented re-identification of research data or specimens should be universally prohibited. Those who give of themselves for research should not face unwanted dissemination of their private genetic and health information, nor should their data be used to reveal their identity.

With the cost of genome sequencing plummeting, the temptation to peer into the genomes of the famous or infamous will grow. We need clear prohibitions on surreptitious genetic testing. If a public figure leaves a wine glass (and a bit of D.N.A.) behind at a restaurant, they should not then find genetic gossip in the tabloids.

Genetic information is powerful, personal and private. The development of adequate and robust policies to protect against misuse is ongoing and will require the collaborative effort of patients, researchers, private industry and government.