Talk

I was in DC at the NIH this week and spoke in front of the Secretary’s Advisory Counsel on Genetics, Health, and Society (SACGHS) about direct-to-consumer genetic testing and DNA Direct. My goal was to make three main points:

1. There’s definitely a need for direct-to-consumer genetic testing.
2. Direct-to-consumer genetic testing can be done responsibly.
3. Currently, there’s a spectrum of companies that offer tests to consumers, and it’s important to distinguish the “good” and the “bad” so that consumers can make informed decisions.

The committee is a consortium of diverse experts in the field of genetics, from lab directors to researchers, physicians, ethicists, and advocacy organizations. This group formulates recommendations that Secretary Leavitt (Health and Human Services) will address with Congress. I was encouraged that some members of the advisory committee recognized that DNA Direct covers many of the issues raised in previous recommendations to the Secretary on direct-to-consumer genetic testing. They further expressed concern that efforts have not yet been made to distinguish direct-to-consumer companies.

Here’s my full presentation…

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Whenever there’s a flurry in the news about genetic testing, we get calls from people who just want to know: What can a genetic test tell you?

There are different types of genetic tests. Genetic tests that screen for “risk” may not be commonly known, but for certain people at certain times, they can be very useful. Knowing whether you have a genetic risk can help you make medical and life decisions — such as planning a family, selecting a form of birth control or starting hormone replacement therapy.

For example:

Risk for Blood Clots: Studies estimate that 60,000 to 200,000 people die each year from blood clots, including DVTs and PEs. At the high end, this condition kills more people than breast cancer, car accidents and AIDS combined. Most people don’t know that 1 in 20 Americans carry the Factor V Leiden gene, which — when combined with medical choices (hormone replacement therapy, birth control pills) or lifestyle factors (obesity, smoking) increases their risk for dangerous blood clots. If you have a genetic propensity for blood clots, you can take action, make different decisions, reduce your risk.

Risk for Iron Overload. About 35 million people in the U.S. — as many as 1 in 4 people of Irish descent, and 1 in 10 Caucasians — are at risk for a hereditary iron overload disorder that causes a wide variety of symptoms, inculding chronic fatigue, weakness, joint pain and arthritis. If undetected, iron overload can lead to serious problems, including diabetes, liver and heart disease. But with early detection, effective treatment can stop the progression of iron overload and even reverse some of the symptoms.

These are just two examples of how knowing about your genes — in a particular context — can help you make better decisions and live a longer, healthier life.

Technorati Tags: genetic testing, genetic risk, family planning, birth control, hormone replacement therapy, blood clots, Factor V Leiden, thrombophilia, iron overload, hemochromatosis

There continues to be much debate in the genetics community about whether genetic discrimination exists. This week’s Grand Rounds spotlights a beautiful piece by Dr. Charles about a patient faced with a serious genetic risk for HNPCC (hereditary nonpolyposis colorectal cancer) and how he responded to her fears of discrimination. He writes,

“There are three things holding back discrimination. The first is the structure of American health care financing system in which only a minority of people are exposed to individual policy underwriting. Most Americans get their health insurance non-selectively through their employers, Medicare, or Medicaid. The second is a web of state laws that explicitly prohibit genetic discrimination in at least 30 states, and implicitly protect in all but three. Federal laws such as the Americans with Disabilities Act and the Employee Retirement Income Security Act have deterred employers and insurers from discriminating, although they have never been formally tested in the court system. The third is that most diseases result from multiple causative factors, chance, or do not stem from simple, easily identified genes with predictable inheritance.”

Whether or not genetic discrimination exists, many of us are concerned that the fear of discrimination is keeping people who could benefit from genetic testing away from testing. Dr. Charles’ patient is a perfect example: the increased surveillance her test results have warranted may mean the difference between a curable or terminal diagnosis.

Read more:

• Why genetic discrimination is not common, and thoughts from Genetics and Health
• Our long discussion of why genetic information is unique
• Human Genome Project: genetics privacy and legislation

Technorati Tags: genetic discrimination, genetic testing, HNPCC, hereditary nonpolyposis colorectal cancer, privacy, legislation, human genome project

A visit with an old friend this weekend underscored my hope that the work we do today will change the lives of our children tomorrow. My friend is 36, the same age his father was when he was diagnosed with and died from colon cancer. My friend has a daughter who is 7, the same age his sister was when their father died.

Anniversaries and hallmarks like this have a way of reminding us of our risks and motivating us to do something about them. (I just reached the age at which my mother had her second breast cancer. Hello again, mammogram.)

From a very young age, my friend has done all the right things to prevent colon cancer, including having a recommended colonoscopy 10 years earlier than the age of his father’s diagnosis. (Colon cancer is slow growing, and it’s highly curable if nipped in the bud. That’s why high-riskers start screening early.)

This visit, I was excited to compare notes with my friend about PreGen-Plus, a DNA stool test for early detection. Since my company now offers this test, he wanted the inside scoop. As an interim screening between his regular colonoscopies (every 10 years), PreGen-Plus can reassure my friend (who is a worrier), that he’s on top of his insides. Should anything develop, PreGen-Plus is an extra step to make sure he catches it asap. That goes a long way toward prevention - and peace of mind, too.

Here’s everything you need to know about colon cancer, from the American Cancer Society: Colorectal Cancer Facts & Figures, Special Report 2005

If you think you don’t need to know about this, Katie Couric and Morgan Freeman will explain why you do.

Technorati Tags: colon cancer, risks, prevention, colonoscopy, PreGen-Plus, DNA stool test, colorectal cancer, Katie Couric, Morgan Freeman

Breast Cancer Chronicles’ has recent posts on preventive options and insurance considerations for women who carry a genetic risk for breast cancer (a BRCA1 or BRCA2 mutation).

“For women who are genetically positive, that is, who carry a gene that increases their risk of developing breast cancer, it’s important to take aggressive action to reduce your risk of following in your family member’s footsteps - or, as I like to say, of wearing her bra.”

Elissa, our clinical director, adds: Choosing to learn whether or not you’re a BRCA carrier is a very personal decision. If you are a carrier, the preventive choices you take are also very personal. As many of you may know, these decisions involve different things for different women - from sense of self, body, sexuality, youth, mortality, empowerment, fear, control, guilt and much more. In short, no decision surrounding BRCA is simple. Genetic counselors are healthcare professionals who can help women (and men) consider whether testing is right for them - weighing the pros and cons of testing, evaluating preventive options, and discussing implications for family members.

I like Lillie Shockney’s suggestion for handling the privacy/insurance issue, and think it is one that I will use if my mother tests positive:

“At $3400, it’s an expensive test. Some women pay out of pocket for the test up front. If the result is negative, they then seek reimbursement from the insurance company; if it’s positive, they never tell.”

Read more about who is at risk for BRCA1-2 mutations.

Technorati Tags: breast cancer, BRCA1, BRCA2, prevention, insurance, family risk, pros and cons

If you were going to get a genetic test, what would be more important to you: Getting genetic testing paid for by your health insurance, or keeping the results of your test out of your medical record?

Technorati Tags: genetic testing, privacy, health insurance

Funny that we should be talking about DNA banking this week. Children’s Hospital of Philadelphia, the oldest pediatric hospital in the U.S., just announced the launch of a major program to collect and analyze DNA profiles of up to 100,000 patients. The goal is to build a database of children’s genetic profiles that researchers can study in relation to disease and disease risk, in hopes of developing new diagnostic tests and drug therapies.

Here in the Bay Area, Kaiser Permanente is developing plans for a database of 2 million adults’ DNA profiles. Other institutions in the US and Europe are developing databases focused on environmental polymorphisms, pharmacogenetics, and common adult diseases.

These new DNA banking projects highlight two major advances that, in tandem, have leapfrogged medical discovery: the scientific advances of the mapping of the human genome and the technological advances of microchip technology. By exponentially speeding up researchers’ ability to collect and analyze genetic data, these advances are ushering in a renaissance in medicine.

Not surprisingly, the CHOP and Kaiser projects are intensifying debate about privacy issues and medical ethics when it comes to genetic information. They also raise the issue of patents versus public interest, of which I expect we’ll be hearing a lot more debate.

What do you think — should genetic discoveries be patented by research institutions or private companies, or does this information inherently belong to the public?

Technorati Tags: DNA, DNA banking, children’s hospital of philadelphia, kaiser permanente, human genome, microarray, genetics, privacy, medical ethics

Some women carry multiple copies of a gene that metabolizes codeine into morphine. These women process codeine at much higher rates than the average person, which means that when they take an average dose of codeine, it is rapidly converted to unusually high levels of morphine.

For new mothers prescribed codeine after childbirth, this can be a tragic cocktail for their babies. A recent study in Canada reports the death of a newborn from morphine overdose via breast milk.

Babylune notes, “This is not a reason to stop nursing. This is a reason to stop taking codeine.” I say it’s also a reason to consider genetic testing for drug metabolism.

The gene involved in codeine metabolism is called CYP2D6. It metabolizes around 25% of all commonly prescribed medications. It’s also involved in the metabolism of some over-the-counter meds, herbal supplements, and even some foods. Knowing your genetic status is useful information if you’re prescribed or considering taking any drugs metabolized by CYP2D6.

Our company will soon be offering drug metabolism testing — and you can be sure I’ll be the first in line for it. Stay tuned!

Technorati Tags: codeine, morphine, breast milk, breastfeeding, painkillers and breastfeeding, medications and childbirth, CYP2D6, drug metabolism, genes, genetic testing

This week’s Journal of the American Medical Association has commentary about the research into genes related to chronic fatigue syndrome (CFS). Unfortunately, the full-text article is closed to the public, but you can get a brief excerpt from JAMA online.

Technorati Tags: chronic fatigue syndrome, CFS, genes, Tracy Hampton