Medical experts have long been aware that vitamin D has its benefits.  Known to prevent rickets and osteoporosis, it is added to the bulk of the U.S. milk supply to help the public maintain healthy bones.

An abundance of new research suggests that the valuable vitamin is much more important than once thought – and that many of us are not getting enough of it.

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Among the recent swath of studies associating common genetic variants with common diseases, Crohn’s disease has fared especially well. A team of international researchers has discovered 21 additional variants that not only increase Crohn’s risk, but expand understanding of how the disease works.

That amount of additional knowledge would be great news for any health condition, but it is especially welcome in Crohn’s disease. Scientists still have a lot to learn about how this inflammatory gastrointestinal disorder does its damage, and the condition is difficult to diagnose and treat.

Knowing your risk ahead of time can help speed a correct diagnosis if you develop Crohn’s symptoms. And better insights may lead to better treatments.

Understanding the importance of these new genetic findings starts with a quick look at the research to date.

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When people interested in Navigenics hear that genetic counseling is a core part of our service, they usually have two things to say. The first is “Great!” The second is “What do you do, exactly?”

Here is a look at who we are, and how we can help you make the most of your genetic insights.

Genetic Counselors are highly trained health professionals with specific expertise in medical genetics and counseling, but many people have never had access to us. That separation reflects the traditional role of genetic information in health care. For a long time, genetics focused mostly on either rare diseases or pregnancy. As a result, you might have been referred to a Genetic Counselor only if a rare condition ran in your family, or if you were considering a genetic test as part of having a baby.

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I recently had the opportunity to hear the CEO of the American Cancer Society, John Seffrin, Ph.D, speak at the Aspen Ideas Festival. In listening to Dr. Seffrin, I heard him convey many of the same beliefs that we have here at Navigenics – primarily the benefits of early diagnosis and prevention.

There were two key data points which Dr. Seffrin mentioned: (1) many cancers are “curable” if found in Stage 1, and (2) that nearly 60-70% of all cancers are preventable. He also noted that prevention, through behavior change and early detection, is our best known “cure” today.

This is exactly the idea behind what we are doing at Navigenics – by helping you identify your genetic risk for a disease, before you start showing symptoms, you can catch it early, treat it early, or perhaps prevent the disease from occurring altogether. 

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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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