When the scientific debate over personal genetic services got a little heated in March, scientists at Navigenics decided to weigh in with our own perspective. Our response is now in print—and the conversation continues.

This particular debate started when prominent federal and international scientists published an article in the American Journal of Human Genetics, criticizing the personalized genetics industry. The study’s authors discussed a number of personal genomics companies, and mentioned Navigenics briefly. The bulk of the study, however, focused on the genetic associations used by seven other personalized genetics companies – a lineup that did not include Navigenics – and found weaknesses in their scientific underpinnings. The researchers further claimed that there isn’t enough scientific evidence to make genomic profiles useful in measuring common disease risk or developing steps for disease prevention.

Scientists at Navigenics read the study, and wanted to set the record straight. 

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If you’re a woman in your 20s or 30s, you probably haven’t had a mammogram. The people who calculate the need for medical tests figure it’s not worth it to screen most women at such a relatively young age.

But if you already knew, from your genes, that you were at elevated risk for breast cancer, you might feel differently. Now, some researchers feel differently about it too.

Researchers at the University of Cambridge found that women with 14 of the genetic markers associated with increased risk of breast cancer had about six times the risk of breast cancer as women with none of the markers. They recently reported their findings in the New England Journal of Medicine.

Their research could mean a big change in the timing of cancer screening for some women, as well as the ways doctors detect early signs of the disease.

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DNA took to the prime-time airwaves last week, when the acclaimed PBS program NOVA scienceNOW looked at the topic of personal genetic services. Navigenics was featured prominently in the segment. Dietrich Stephan,our co-founder and Chief Science Officer, sat down with host Neil deGrasse Tyson to explain how the process works. After Tyson chose to explore his own DNA using the Navigenics service, Elissa Levin, our Director of Genetic Counseling, helped Tyson understand his results.

The segment offers a balanced look at genetic services, addressing some of the broader critiques about genetic testing head-on. We are honored that a scientist such as deGrasse Tyson, a prominent astrophysicist, weighed those concerns and still saw the value of revealing his own DNA insights.

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The field of personalized medicine is filled with many players, each with its own approach.  Physicians considering the Navigenics genetic health service often ask me if we follow best practice guidelines set forth by leading professional societies. My answer is a clear “Yes.”

Leading medical genetics societies, such as the American College of Medical Genetics, the American Society of Human Genetics, and the National Society of Genetic Counselors, have laid out clear standards for the field of personal genetic services. These industry leaders usually describe our field as “direct-to-consumer” genetics, meaning that individuals may access these services themselves, rather than being required to seek a test through their doctor.  And these groups want to make sure individuals who turn to these services receive high-quality care.

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Want to know more about three recent studies linking DNA and lung cancer? Here’s a quick look at the basics, along with some thoughts on why the findings are interesting.

First the highlights, from the journals Nature and Nature Genetics:

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Genetic testing has been making headlines recently, but not just for the promise it holds for boosting health. Instead, regulatory issues in the state of California have been at the forefront of the news. State health officials recently sent letters to more than a dozen genetic testing firms, including Navigenics, asking each to stop providing services to customers.

At issue is whether genetic testing companies adhere to California’s clinical laboratory licensing laws.  Here at Navigenics, we believe we do, and we will work diligently with both state and federal regulatory agencies to clarify any misunderstandings.

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When President Bush signed a powerful new law prohibiting genetic discrimination last month, it was great news – even though the law doesn’t take effect until next year. Here is how these safeguards matter in the meantime.

The new Genetic Information Nondiscrimination Act, or GINA, creates important protections that give you more control over your DNA and your health.

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If you consider yourself fairly trim—perhaps a woman who is 5’7’’ and weighs about 135 to 140 pounds, or a man who measures an even 6 feet and weighs 170 pounds—you may think you don’t have to worry about your weight and your health. You may need to think again.

We’ve all been trained to assume that a lower BMI, or Body Mass Index, always equals better health. But recent research from the Mayo Clinic says what really matters is body fat, not weight or BMI. You may appear to be in pretty good shape, but form isn’t always an accurate indicator of body fat. And if you carry a relatively high percentage of body fat – more than 20 percent for men or 30 percent for women—you may still be at increased risk for serious health problems such as diabetes or heart disease. 

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Since its inception, Navigenics has been driven by the vision of improving health outcomes. The feedback from our members is exciting. Over the last few months we have heard from those discovering colon cancer risk and then finding polyps, discovering glaucoma risk and then discovering elevated eye pressure, discovering celiac disease risk and then getting a positive diagnosis, and many others. 

We are at the very early stages of the new era of predictive genomics and personalized medicine.  There are many voices, there is much debate and there is great dialogue.  As part of furthering that discussion, today we are pleased to announce the launch of our official company blog, The Navigator. Through this blog, we hope to add our voices more regularly to the dialogue on genes and health. We also want to create the opportunity to get more of your feedback and add your voices to the discussion.

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