The ethics of genomics: 4 explorations

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The rise of genomics and pursuit of personalized medicine has been spurred by any number of factors, including the relatively low cost to analyze an individual's genome, the promise of medical breakthroughs and personalized treatments, a push for preventive medicine and patients trying to be proactive in their healthcare.

Two key genomics markets are growing: the clinical and research-oriented focus such as the Obama administration's Precision Medicine Initiative and the direct-to-consumer focus, which entails companies collecting DNA samples from individuals and mailing them genetic testing results.

While these drivers of genomics are all aligned with benefits and the promise for more targeted, effective healthcare, personalized medicine also presents a myriad of ethical questions and risks.  

Here are four explorations into some of those key questions and concerns.

Genetic tests offer probabilities, not definite diagnoses
An indication in a person's gene of a disposition toward a certain ailment does not mean that person will definitely be diagnosed with that ailment later in life, but making sure patients understand this distinction is critical. "This isn't deterministic. We have to be careful in the message to consumers that this is not a life sentence or this is not fortune telling," says Rebecca Lord, vice president of user experience at digital health consultancy Medullan.

It is incumbent upon providers and geneticists working with patients to provide information in context and support patients so they understand the risks and information in a fair and accurate way, according to Ms. Lord.

Informed consent
A key ethical question regarding genomics, according to John Lantos, MD, director of the Children's Mercy Bioethics Center in Kansas City, Mo., is determining how much an individual wants to know about their own genetic makeup. It's generally not an issue among adults. "As long as I explain to you the risks and you are a competent adult, you can make a decision about that," he says.

However, Dr. Lantos' work deals mainly in pediatrics, where informed consent is murkier. For example, a question very different from adults seeking to test their risk for Alzheimer's disease is testing babies for their risk for developing Alzheimer's disease. He says that some competent adults want that information, and others don't, so should parents be allowed to make that decision on behalf of their baby? If a parent does want that test done, it forecloses the option for the baby to make that decision for him or herself as an adult.

The American Academy of Pediatrics says such predictive genetic testing should generally be avoided, unless intervention that begins in childhood could reduce morbidity or mortality. 

Patient privacy
Health systems and the National Institutes of Health are developing biobanks, repositories of biological specimens for research purposes, in pursuit of genomic medicine. As healthcare is already a targeted industry for data breaches, will databases with people's genetic information be even more alluring for hackers?

Even though such specimens are reportedly de-identified, Dr. Lantos says genetic information can never be de-identified completely. Though somebody might be able re-identify the genetic information, he says the risk of this ever happening is "extraordinarily low."

The NIH's National Human Genome Research Institute acknowledges and addresses the fact that it is possible to re-identify research participants using genomic information from a database alongside public records and genealogical information. To mitigate this risk, the NIH controls access to sensitive information, and only researchers who have submitted requests can access individual-level research data held in federal databases.

However, on the direct-to-consumer side of genomics, privacy safeguards are less clear. Regardless of what genetic companies say regarding protecting genetic information, there is no regulatory oversight over these policies, according to a 2013 article in the Yale Journal of Biology and Medicine. "There are currently no laws that dictate what happens after a genetic testing company goes out of business," according to the article.

Though progress here is coming: The NIH has granted $2 million to a project called LawSeqSm, which will gather legal, ethics and scientific experts to establish a legal framework for genomic medicine.

The promise of genomics
 The great potential of genomics is met with ethical concerns and considerations, but such questions surround all ambitious projects.

Ms. Lord is optimistic that genomics will help population health efforts as well as help healthcare consumers be more accountable for their health. "I hope it means that we as healthcare consumers are more preventative, that we have the information and the data we need to make decisions," she says. "It's something our physicians want us to do — be more conscious about our health and smarter about the actions we take, and genomics is just another way of helping us understand where our risks are."

However, Dr. Lantos' view, at least on the direct-to-consumer side of testing, is less idealistic. He offers the example of an individual who gets tested and is told he has a 10 percent higher risk of having a heart attack in the next 20 years than the general population.

"If you took that to your doctor, what would your doctor do with it? Your doctor would probably say, 'Well you should exercise more, stop smoking, not be obese and watch your cholesterol.' What would the same doctor say to you if you hadn't brought in your genomic test and were worried about a heart attack? They would say, 'Stop smoking, exercise more, not be obese and watch your cholesterol,'" he says.

More articles on genomics:

Genomic sequencing can help determine end of a TB outbreak 
A new use for genomics: Using DNA to find wine preferences 
HIPAA doesn't apply to Precision Medicine Initiative, sparking privacy concerns 

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