Chris Anderson

The explosion of genetic tests and the ability for individuals to sequence their entire genome raises ethical questions.

As the genomic age takes hold, the medical and pharmaceutical industries are just now beginning to scratch the surface of innovation in testing for a wide range of diseases, as well as creating highly targeted therapies based on an individual’s genetic makeup. But as clinicians embrace the great promise of personalized and precision medicine, the explosion of new genetic data is raising often hard-to-answer ethical questions. How should this information be used? How should it be protected? To whom should it be disclosed?

While the government has stepped in with legal protections—most notably the Genetic Information Nondiscrimination Act (GINA)—the scope of these laws don’t have much relevance to clinicians or researchers. In the case of GINA, its protections are largely designed to protect people from being denied health insurance or from discrimination in the workplace based on their genetic information. As a result, policies for the handling of healthcare information are often based on advisory positions of professional societies or formulated on a case-by-case basis.

“We have been dealing with the genetic testing issue for quite some time. That is not new,” said Kimberly Strong, Ph.D., assistant professor, bioethics at the Medical College of Wisconsin. “The difference now is about the scope and scale of information. We are more able to think about discreet information—testing for X, Y, and Z. But [the human genome] is so vast that it is hard to get your head around it.”

Therein lies the problem for those people who are relatively healthy, or at least have no clinical indications that would suggest a narrower screen for a particular disease, and want to have their genome sequenced. The human genome, being a vast expanse of genetic information with many of its secrets still to be unlocked, has the potential to raise more questions than it answers. “Even genome scientists haven’t figured out what it all means,” noted Ellen Clayton, M.D., J.D., co-founder and professor at the Center for Biomedical Ethics and Society at Vanderbilt University. “They spend a lot of time debating about what is pathogenic and what is not.”

Not All Genetic Information Should Be Treated Equally

It would be a simpler world if doctors could handle information derived from genomic testing the same as they do any other medical and diagnostic test results. Unfortunately, navigating this new world is much more nuanced.

“The amount of information clearly is expanding, and one of the first elements is to determine whether genetic information is like any other information, or does it have a different status,” said Andrea Vicini, M.D., S.J., associate professor of moral theology at Boston College. “And the way we answer will have different implications.”

In some instances, such as cancer screenings, which focus on specific sets of genes and seek a specific diagnosis, this information is like other medical information, Dr. Vicini noted. The screen detects the cancer and in many cases even suggests which of the drugs available on the market should be most effective in treating it.

Yet the waters aren’t always crystal clear. Such is the case with mutations of the BRCA1 and BRCA2 genes, which indicate a significantly increased risk of developing breast or ovarian cancer. The mutations are detectable and screening is recommended for women whose family shows a history of these cancers. From a strictly clinical viewpoint, screening would be suggested, but even so, many women choose not to have the test—a choice to live without the burden of knowing they have increased risk.

Disclosure of some genetic characteristics can also have much broader impacts. “In some cases, we should clearly be aware that the genetic information we have acquired has direct implications on other persons,” Dr. Vicini said. “So we need to be very careful how we handle that information.”

Another issue of disclosure clinicians must consider is when a diagnostic test targeting a specific disease returns incidental, unrelated information that might indicate increased risk for another disease. “There is discussion of when you do genome sequencing, what results should patients have the option of receiving, and what the professional obligations are about returning these results,” noted Dr. Strong. “So there are practical and ethical issues around whether we honor the wishes of the patient and where testing could show indications of increased risk for a condition the patient said they don’t want to know about.”

Debate around this issue came to a head last year when the American College of Medical Genetics and Genomics (ACMG) determined that genome sequencing analysis had to include examining variants in 56 specific genes. The ACMG held that if a variant was discovered, regardless of the context for the screening, the information had to be disclosed to the patient. Although the ACMG later softened its stance to allow patients to choose what information they want and don’t want to receive, the organization’s original position focused attention on the balance between physicians acting on clinically relevant information versus the personal choice of a patient not to know.

For Dr. Clayton, sequencing also raises questions about what kind of counseling and preparation is needed for people choosing to have their whole genome sequenced: “I think the challenge we are going to run into—if we really do whole-genome sequencing—is telling people the full panoply of what is likely to be uncovered and to tell them what kinds of things will be interpreted and what not.

“Because one question is, every time you do whole-genome sequencing, should you analyze [the genome] in its entirety? The answer to that may or may not be yes. But if it is not, you have to then tell people about the kinds of information that are really important to return and then give them options.”

Psychosocial Implications of Testing

The good news is that people facing decisions about genomic diagnostics and screenings aren’t left to fend for themselves. As they have for more than a generation, genetic counselors meet with patients both before and after a screening. Before, they discuss what the tests have the potential to uncover. After, once the results are received, they help patients understand their implications and provide information about the range of treatment options.

These sessions, however, are often rife with tension as the tests are usually administered to patients with potentially life-altering diseases and conditions. And while the traditional role of genetics counselors is to provide, without bias, the available options, they are also aware of the potential emotional implications of the path their patients are headed down.

“Genetic counselors are trained in the psychosocial implications of the testing, risk assessment, and decision-making process—that is a big part of our training in the credentialed masters programs that counselors go through,” noted Jennifer Hoskovec, president of the National Society of Genetic Counselors.

That said, while genetic counselors can’t foresee every possible scenario, they can provide some anticipatory guidance to patients by pointing out how the findings could have long-term implications. “Where genetic counselors continue to play a role is in that initial support, helping patients work through how they discuss it with their family members, which family members are most immediately important to have the conversations with, and to facilitate that discussion,” Hoskovec added. “But at some point, there are patients who need more and may need a referral to a counselor or psychologist or someone who can deal, long term, with the emotional issues.”

It is exactly these long-term psychosocial issues that are of concern to Dr. Strong, especially for cohorts of those who seek testing based on family history as well as those who are seemingly healthy and have the tests to identify potential health risks. “I’m interested in [patients’] motivations—why some people pursue this testing, and [how they come to decide] whether sequencing is going to be a useful endeavor,” Dr. Strong said. “[Another issue is particularly important] to those who aren’t dealing with a specific diagnosis: [Is it understood] how life changing these [tests] can be if they uncover something significant? I think these issues will influence discussions around appropriateness and ethical use of these technologies.”

As Dr. Clayton sees it, the far-reaching implications of more broadly available genetic testing and whole-genome sequencing may be what ultimately steers people away from it in the future and instead keeps the bulk of testing focused primarily on diagnoses of specific medical conditions based on a patient’s current symptoms.

“Without a better understanding of what is at stake, the idea of doing whole-genome sequencing as a strategy for everybody is not ready for prime time. That we can say pretty clearly,” Dr. Clayton concluded “There is a lot more attention to be paid to the possibilities of more targeted genetic testing and to think really clearly of what the implications are for whole genomes and whole exomes. As our understanding changes, that may change. But this is not a technology that we should embrace on a population basis right now.”

Chris Anderson ([email protected]) is the former chief editor of Drug Discovery News, which he helped launch in 2005.

This article was originally published in the October 8 issue of Clinical OMICs. For more content like this and details on how to get a free subscription to this digital publication, go to

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