Genome Sequencing: Who Gets to Use the Data?

Imagine having a child and knowing at birth what diseases he or she will face in life.

It’s an ethical conundrum for parents: would you even want to know? This knowledge sounds almost too futuristic, and in many ways it is. But experts say genome sequencing technology is rapidly advancing and becoming less expensive, and it could shape the way we approach preventative care and the insurance industry.

Today, parents can receive newborn screens that check for diseases that need to be treated in infancy as well as genetic testing during early pregnancy that identify possible abnormalities.

The current cost of a complete genome sequencing using blood and saliva comes with a price tag of about $1,000, according to Jeffrey Kahn, deputy director for policy and administration at the Johns Hopkins Berman Institute of Bioethics.

“It takes a few hours to produce now. As that gets faster and cheaper, it becomes something that is on a scale where it is almost worthwhile to do for everyone,” Kahn says. “It would be a big change, moving from that newborn screen to doing full genome sequencing on every child that is born.”

But having access to a child’s sequence today doesn’t mean much. In fact, Kahn likens it to having all of the telephone numbers in the white pages without the names. The sequence would have to be run through software that could pick out certain gene mutations to determine predispositions.

“The question then is: who should access this data, and for what purposes?” he says.


In 2013, the Food and Drug Administration warned Google-backed (NASDAQ: GOOG) 23andMe to stop selling its $99 genetic tests sold at retailers because it had not received regulatory clearance. The FDA says products that are designed to diagnose or prevent disease are technically “medical devices” and need regulatory approval.

Misha Angrist, assistant professor at the Duke Institute for Genome Sciences & Policy, says the biggest “bottleneck” within the industry is interpretation.

“With 23andMe, the FDA said you cannot tell people what this genetic information means for their health,” he says. “You can tell them about their ancestry or a gene that may make their pee smell funny if they eat asparagus, but you may not go into detail about what this means. So the question becomes, who gets to interpret this?”

Angrist says giving this information to parents makes sense, but cautions that introducing genome scans on a mass clinical scale within the next five years would inundate the medical world and consumers since they will provide too much information on too wide of a playing field.

“It is the ‘drinking from a fire hose’ problem,” she says.

Health Insurance and Prevention

The Genetic Information Nondiscrimination Act (GINA), signed by President George W. Bush in 2008, protects Americans from being discriminated against based on their genetic information in regards to health insurance and employment. The act promises “personalized medicine without fear of discrimination.”

Insurers have become even more regulated since GINA passed with the Affordable Care Act becoming law two years later, which mandates that no individual can be charged more by insurers for having a pre-existing condition. In the past, sick individuals could be charged up to five times as much for coverage as healthier or younger enrollees. Now, that ratio has been reduced to three-to-one, as far as what insurers can charger older and sicker people compared to what they charge young and healthy people.

Kahn says the only way genetic information would impact the health-insurance industry would be if GINA changes in response to advanced genome technology.

“Today, we spread the risk around, which is the whole point of community-based insurance,” he says. “They can’t use this information unless federal law is changed.”

Laura Lyman Rodriguez, director of the division of policy, communications and education at the National Human Genome Research Institute, says it’s unlikely GINA would ever be reversed, even as genomics continues to advance.

“I think where risk assessment is important is in clinical care. It’s increasingly important for physicians to know about it to guide care,” Lyman Rodriguez says. “So much of what we actually develop has to be with how and when we live our lives. Something about your genomics, at the base level of information, means you can make different interventions in preventative ways: exercising more, not living on macaroni and cheese, or choosing a particular drug or course of treatment.”

Life Insurance and Long-Term Care

While health-insurance industry would not be able to charge individuals more based on their genomic data, Lawrence Brody, chief and senior investigator at the Genome Technology Branch of the National Human Genome Research Institute, points out life insurance and long-term care don’t not fall under the rules of GINA.

“If you have a motorcycle, it changes your life insurance rates,” Brody points out. “If you work as a roofer, it changes your rates, so clearly they can separate out people who are prone to Type 2 diabetes [with genomic information] and actuaries would love to use that type of information.”

But breaking down those seeking insurance by who is susceptible to heart disease versus muscle disease and conducting risk assessment based on these stats may leave life insurers with very few people to insure, or that they actually want to insure, Brody says.

“The question is for life insurance is ‘will [these stats] be useful tools?’” he says. “If they turn out to be, we do have societal issues, such as if you can actually be compelled to give over a genetic result or to take a genetic test.”