Talk

Guest post from Lisa Kessler, DNA Direct’s Senior Genetic Counselor:

A recent article in the New York Times about red flags for hereditary cancer went into detail about specific findings in families. About 5-10% of cancers are thought to be strongly hereditary; for people who worry about their genetic risk, and who have a family history consistent with a hereditary cancer syndrome, genetic counseling and genetic testing can be extremely useful for decisions about personal and family health.

The article emphasizes the need for “intensive professional counseling” for individuals and families concerned about hereditary cancer risk, and I agree completely. I believe that genetic counseling helps people understand whether testing is medically indicated—and why, learn the benefits and limitations of testing, and understand why a certain family member might be the most informative person to test.

At DNA Direct, genetic counseling is required for people considering testing, both before and after hereditary cancer testing. Our counseling model provides people with an opportunity to learn about the testing to determine if it’s right for them — and for their families.

Most people aren’t familiar with the type of information discussed in a genetic counseling session. At DNA Direct, a pre-test genetic counseling session for someone considering BRCA1 and BRCA2 testing (genes for hereditary breast and ovarian cancer risk) includes, but is not limited to:

• discussion of personal medical history related to cancer
• drawing and interpretation of a 3-generation family health history diagram
• discussion of who in the family is the most appropriate member to test first
• background information about genes, chromosomes, and inheritance
• specific cancer risks associated with having a BRCA1/2 mutation
• options for cancer screening and prevention for people at high risk
• discussion of the benefits and limitations of BRCA testing, including psychological impact
• understanding the possible results of testing

If people proceed with testing through DNA Direct, a board-certified genetic counselor discloses the test results over the telephone. Then, clients can access a detailed, 5-chapter Personalized Report that reviews much of the information discussed during the pre- and post-test consultations. Because people often have questions after receiving their results, our genetic counselors are available to answer questions or simply for support, for all who test with us.

Not all patients can see a genetic counselor in person. Providing counseling by telephone gives us at DNA Direct the chance to increase access to genetic services in a responsible way, with a focus on ensuring reliable, easy-to-understand and informative results.

Lisa Kessler, MS, CGC
Senior Genetic Counselor

Guest post from Ryan Phelan, DNA Direct’s CEO and founder:

With President Bush signing the Genetic Information Nondiscrimination Act (GINA) into law today, this marks the first civil rights legislation to pass in the 21st century!

From the time I started DNA Direct, we have had people seek us out to order genetic testing because of their concern with privacy issues around genetic testing. I’m reminded in particular of a young woman who chose to test with DNA Direct because of her significant family history of a blood clotting disorder, and yet did not want this type of personal medical history in her medical record. When she tested positive with us for a blood clotting disorder, we encouraged her to talk with her personal physician (as we do with all our customers) and it saddened and concerned me that she felt so fearful to do so. I am pleased to say that once GINA has been put into effect (approximately 1 year), this woman and others like her will be able to feel much more secure that their genetic information will not be used against them to deny them health insurance.

This legislation, more than a decade in the making, prohibits group health plans and health insurers from denying coverage to a healthy individual, or charging that person higher premiums, based on a genetic predisposition to developing a disease in the future. GINA also bars employers from using individuals’ genetic information when making hiring, firing, job placement, or promotion decisions.

While GINA doesn’t address medical privacy across the board, it does represent an important step forward for the cutting-edge field of molecular diagnostics and the promise of personalized medicine.

At DNA Direct, we believe GINA will create better protection for consumers, generate more awareness around the benefits of genetic testing, and therefore increase overall access to testing for everyone. We’re looking forward to seeing important developments in personalized medicine that will doubtless follow this important event!

Hats off to our friends at the Genetic Alliance who worked so hard to push GINA forward and to the countless other advocacy organizations and industry leaders who helped bring awareness and support for GINA.

Ryan Phelan
Founder & CEO
DNA Direct

Marfan syndrome has been in the news a bit recently (”Old Drug Offers New Hope for Marfan Syndrome“). Perhaps not coincidentally over at MedHelp’s Genetics Forum, our senior Genetic Counselor Lisa Kessler has received a few questions about Marfan syndrome.

Marfan syndrome is an inherited disorder that affects the connective tissues, which hold the body together and are involved in growth. Marfan syndrome can also affect the heart and blood vessels, bones, cartilege and ligaments, eyes, lungs, and skin. According to Janis Cortese, it’s also “a big pain in the ass.”

Named after Antoine Marfan, the French pediatrician who first described the condition in 1896, Marfan syndrome affects an estimated 1 in 5000 people. It is inherited in a dominant manner: if one parent has Marfan syndrome, each child has a 1 in 2 (or 50%) chance of inheriting it, too.

With today’s early diagnosis and better medical and surgical treatments, people with Marfan syndrome are living longer and healthier lives, with fewer and less severe complications. Interestingly, along with longer life spans come new issues of aging with this chronic and progressive condition.

• Video: Dr. Nancy Snyderman spotlights the life of a girl on The Today Show, “Understanding Marfan Syndrome”
• Resource: National Marfan Foundation
• Read More: Practical and detailed info about life and issues surrounding Marfan Syndrome

* Interesting note: Clinical discoveries take time. They don’t happen overnight. On May 8, NPR reported on the promise of the blood pressure drug, Losartan to treat Marfan syndrome, spotlighting a boy named Blake Althaus. Two years earlier, in April 2006, NPR reported on promising mouse research, which led the way for human clinical trial later that year that Blake is participating in. At that time, Dr. Hal Dietz of Johns Hopkins said, “The effect in the mice was so dramatic that it’s led to some degree of optimism that this will translate to people.” Today, Dietz “cautions patients that the drug might not work for everyone and that he doesn’t think it will fix everything. But at the same time, things look promising…. He tells his patients that the trial is the only way they can really see what the drug does, find the right dose and identify any side effects.”

This is a guest blog post from our VP of Clinical Affairs, Trisha Brown:

The healthcare system is evolving as individuals begin to step outside of their local, or traditional, healthcare resources to find what they’re looking for. This is well-illustrated by the medical genetic testing industry, where there is a growing trend in direct-to-consumer (DTC) marketing. In response, the regulatory environment is scrutinizing the entire industry and how each company interacts with individuals.

I recently spoke on this topic at the Dark Report-sponsored Executive War College on Laboratory and Pathology Management held in Miami (where it was slightly cooler than San Francisco for a change). The audience was made up of about 650 C-suite executives and directors of clinical labs — from the big names to small pathology labs and hospitals. A major theme at the conference was that the ability to compete in the lab testing space is not about the testing itself anymore, but rather service, service, service. Labs are concerned with everything from customer phone service to how they partner with physicians to enable them to do their jobs better by providing information and effective results reporting.

I opened the second day of the conference with a presentation on the virtual medical genetic testing landscape and how it has become a DTC trend, with multiple companies offering a range of services, often at the click of a button. The regulatory scrutiny that is growing along with the industry is important because the heightened scrutiny will extend to all of the clinical laboratories — as the Secretary’s Advisory Committee on Genetics, Health and Society put it, it is becoming “increasingly difficult to distinguish genetic testing from other complex laboratory testing.”

There is also a tendency to lump all of the companies, including DNA Direct, together into one big DTC bundle, which is inaccurate given the varying service offerings. DNA Direct, for example, is committed to assessing individuals pre-test to ensure the right people get the right test at the right time. We’re also the first and only company to create transparent standards and guidelines for web-enabled services and we follow the standard medical guidelines for applicable tests; this is appealing to individuals looking for a reliable and medically sound testing experience.

I gave the example of a young Ashkenazi Jewish couple who visited their doctor to discuss carrier screening prior to their honeymoon. Unfortunately, their insurance wouldn’t cover the tests since they weren’t currently pregnant, and the cost was going to be $4,000. The couple decided to go shopping online and came to DNA Direct, where the couple was counseled to test one person at a time to eliminate unnecessary tests and costs. The groom-to-be took the bundle of tests, at a cost of $1,200, and only tested positive for the enzyme associated with Tay-Sachs. Thus his fiancée needed one $300 test to confirm whether they were at risk for offspring with any relevant diseases. This is a nice example of how individuals are taking control of their own healthcare. The opportunity for individual labs, of course, is to better educate physicians on selective testing in order to avoid costly, extraneous tests.

This is DNA Direct’s philosophy — our genetic testing tools and services empower individuals and physicians by providing guidance fortesting and context around results. We also host a number of services for labs who are trying to enhance their pre- and post-analytical solutions for physicians, so they can improve their service and keep up with healthcare innovation.