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If your doctor could tell you that you'll get breast cancer, would you want to know?

If your doctor could tell you that you'll get breast cancer, would you want to know?


Genetic testing is becoming more affordable — and posing hard questions

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Counsyl, a Silicon Valley company that screens prospective parents for their risk of passing on rare inherited diseases, has expanded its genetic testing service to assess your inherited risks for breast, ovarian, prostate, and pancreatic cancers. The expanded testing, which arrived on the heels of $28 million in new funding raised from Goldman Sachs and others, comes in the midst of a national discussion over the proper role of genetic testing in preventative medicine. Counsyl’s take is summed up by its new tagline — "It’s good to know." But is it?

As the price of mapping an individual human genome has rapidly declined, companies have sought to profit by offering low-cost genetic tests to consumers through the mail and retail outlets. Last fall the Food and Drug Administration ordered 23AndMe to stop selling its DNA test kit out of concern that the company had marketed its products without necessary regulatory approvals. The crackdown spooked the industry, and the FDA followed up with similar letters to companies including Illumina, Decode Genetics, Navigenics, and Knome Inc.

An industry that is changing quickly

Founded in 2008, Counsyl has sought to differentiate itself from companies that scan your entire genome by offering people medical information they can take action on. Its tests require physician approval, and they’ve been designed to help patients make decisions about reproduction and mastectomies that could preempt breast cancer. The company has screened more than 250,000 people to date, mostly prospective parents who want to learn about their risk of passing on rare inherited diseases to a child. Now the company is offering patients the chance to learn about their inherited cancer risk in hopes of helping them detect any abnormalities early and take appropriate action. Some users of the service who are at high risk of breast cancer, for example, have elected to undergo double mastectomies. With insurance, the test costs between $150 and $300 — it’s $999 without — putting this form of screening within reach of more Americans than ever before. (In recent years, getting your genome scanned has cost $3,000 to $4,000.)

Ramji Srinivasan, Counsyl’s co-founder and CEO, says the company’s focus on involving doctors both before and after the test mark an improvement over some of its rivals. After receiving test results through the company’s website, patients are given the option to talk to a licensed counselor. "We think it’s important for anybody to understand this kind of vital information," Srinivasan says. "But we want them to have the appropriate context and care during the process."

How can companies avoid causing harm?

The question is what constitutes appropriate context and care. There’s still no real consensus about which populations should submit themselves for genetic screening, how those results should be presented, and what actions patients should take as a result. "This is one of the biggest issues in thinking through how we’re going to translate all of the information coming from the mapping of the human genome into clinical and public health practice," says Barbara Koenig, a professor of medical anthropology and bioethics at the University of California at San Francisco. "How to avoid doing it prematurely. How to do it thoughtfully. How to enable people’s real choices. How not to cause harm."

Those issues were up for debate in San Francisco last week in a series of lectures at UCSF with leading bioethicists. Wylie Burke, who leads the Department of Bioethics and Humanities at the University Of Washington, outlined a number of concerns that the medical community is working through when it comes to genetic testing. "The question is begged whether it’s okay for consumers to just buy whatever they want," she said. "I think it’s first of all a safety issue, and it’s perhaps a truth-in-advertising issue." Margaret Lock, a medical anthropolgist at McGill University, described a study of people who had undergone genetic screening for their likelihood of developing Alzheimer’s disease. It found that many patients expressed confusion about what their results meant, and that few of them made changes to their lifestyle that could reduce their risk of developing the disease.

Counsyl’s results are delivered via a secure website with a clean, modern design heavy on white space. The full report on your genetic screening contains a list of diseases and the relative risk that either you or your child will contract it, expressed as a fraction of the population: "less than 1 in 210,000," for example. Clicking on a disease will offer you more information on the disease’s symptoms and how they are treated. It can be difficult, looking at the table of results, to know what to make of the fact that you have (say) a 1 in 3,600 chance of passing cystic fibrosis on to your child. Counsyl says that’s where its genetic counselors come into play.

"We need public deliberation."

But that raises questions of its own. Taking up doctors’ time to review test results when the patient has no basis for concern could create what Burke calls "a raiding the commons problem." Surely, a large number of patients will benefit from learning the results of their genetic makeup. But doctors will have to learn how to balance their existing responsibilities with the need to review the results of patients’ genetic screening tests.

Most sensitively, there are the issues around how genetic information is used in reproduction. Counsyl’s genetic counselors walk patients at high risk of passing on inherited diseases through a range of options: in-vitro fertilization, so-called "watchful waiting," adoption, and abortion. But as the power of genetic screening to predict other traits and conditions improves, issues around eugenics are primed to explode in the public discourse. "I don’t think we have a societal consensus about that," Burke said. "That’s clearly something where we need public deliberation."

Counsyl isn’t what the FDA calls a "direct to consumer" product — it requires a doctor’s note to purchase the test. And the founders say their sole focus is to develop tests that improve patient outcomes. "Our love is for useful clinical information — the things that can actually impact patients’ decisions," Srinivasan says. That’s one reason the company tests for specific risks instead of scanning the patient’s entire genome. "We would not want to offer a test like that — that has no clinical utility," he says.

But as testing improves, our opinions about which tests have "clinical utility" may change rapidly. Tests like the ones Counsyl provides are proving a boon to thousands of people looking for information about potentially fatal conditions. But they’re also raising questions that remain very much unanswered.