Talk

A recent editorial in the Washington Post, “Trig’s Breakthrough,” has caused a lot of discussion in the genetic counseling community. It uses Sarah Palin’s youngest child’s entry on the political stage as a platform to address genetic testing. Roxanne Ruzicka, a genetic counselor in Los Angeles and consultant to DNA Direct, sent a thoughtful commentary to the National Society of Genetic Counselors listserv. So, I asked if she would be interested in writing a guest post for this blog.

Guest Post by Roxanne Maas, MS, CGC:

As a genetic counselor, I feel compelled to comment on “Trig’s Breakthrough,” an editorial that appeared on the WashingtonPost.com website on Sept. 10, 2008.  The editorial, by Michael Gerson, contained disappointing and disturbing inaccuracies about the role of genetic counselors and the purpose of prenatal screening for Down syndrome.  His misinterpretation of the goal of genetics professionals’ work feels like a stab in the heart; I chose this career to support and assist people who have or are at risk for genetic conditions, not to try to eradicate them from the world.

I take issue primarily with three main points Mr. Gerson made:

1. Mr. Gerson stated “Last year the American College of Obstetricians and Gynecologists recommended universal, early testing for Down syndrome — not just for older pregnant women.”

This is false.  ACOG recommended that all pregnant women be OFFERED prenatal screening, which is for a variety of conditions, not only Down syndrome.  Women have every right to decline prenatal screening, and some do.  However, those that have prenatal screening usually find out that their baby has a very low chance for a severe problem.  Then the screening results provide reassurance and lead most women NOT to undergo prenatal testing, such as amniocentesis.  Women who receive a positive screening test result then undergo genetic counseling to discuss the implications of the results.  Some opt for diagnostic prenatal testing and some do not.  Any and all testing is entirely the choice of each woman and the genetic counselor’s role is to help the patient understand the tests and make their own decision about which tests, if any, to have.

2. Mr. Gerson stated that “When Down syndrome is detected through testing, many parents report that genetic counselors and physicians emphasize the difficulties of raising a child with a disability and urge abortion.”

I cannot speak to what some physicians tell patients, but genetic counselors always strive to present a balanced view of the positive and negative aspects of any genetic condition.  We have extensive training in non-directiveness and our goal is to enable each patient to make the decision that is best for them, in light of their beliefs and circumstances, not to push for “eugenic abortion.”

3. Mr. Gerson also stated “If traditional Democratic ideology means anything, it is the assertion that America is a single moral community that includes everyone. How can this vision possibly be reconciled with the elimination of children with Down syndrome from American society?”

First, in my 12 years working in the medical field, I have not met a single person who is trying to “[eliminate] children with Down syndrome from American society.”  As I stated above, genetic counselors and all of the other medical professionals I have met strive solely to enable their clients to make the best decisions for themselves, not to promote a personal agenda or rid the world of people with disabilities.

Second, a community that includes everyone by definition includes those that would choose to continue a pregnancy with Down syndrome or another genetic condition and those that would choose not to.  Such a community would not shun and berate individuals who, for any of myriad reasons, wish not to live through several more months of a pregnancy that has been diagnosed with a genetic condition or commit themselves to a life caring for a child they feel they will not be able to handle.  At the same time, such a community should fully support those that elect to follow through with any pregnancy.

In a tolerant society, people of all beliefs and people who would make different decisions can live together and respect each other, even if they would not make the same decision.  You may never be able to truly walk a mile in someone else’s shoes to fully understand their motivations and decisions, but you can respect them.

Roxanne Maas, M.S., CGC
Los Angeles, CA

• National Society of Genetic Counselors

And speaking of personalized medicine and genetic testing for drug response…

The FDA recently recommended that people have genetic testing for HLA-B*5701 before taking the AIDS drug, abacavir (brand-name Ziagen). This test can identify people who carry a genetic marker that is associated with life-threatening hypersensitivity reactions.

Right now, abacavir hypersensitivity reaction occurs in around 8% of patients, and shows up within the first six weeks of therapy.

“The guideline change represents one of the first situations in which a genetic test has been recommended for use in clinical practice to guide drug selection that will affect treatment decisions for thousands of patients each year,” says Dr. Bruce R. Schackman, associate professor of public health and chief of the Division of Health Policy in the Department of Public Health at Weill Cornell Medical College. Dr. Shackman is the lead author of a new study that evaluated the cost-effectiveness of genetic testing for abacavir hypersensitivity.

Abacavir is often used in “cocktails” with other antiretrovirals, including Epzicom and Trizivir.

From FDA’s materials for healthcare professionals:

Information for Patients to Consider if they are taking Abacavir:

• Some people are at greater risk for serious allergic reactions when first starting treatment with abacavir or with medications containing abacavir in a combination medicine. We can test for a risk factor for such reactions, which is called HLA-B*5701, before giving abacavir. Tests for HLA-B*5701 are readily available.
• If you test positive for HLA-B*5701, then your doctor will take that into account for your medical care.
• If you test negative for HLA-B*5701, you are at lower risk of a serious allergic reaction when taking abacavir, but it could still occur, and you still should be watchful.
• Even if you have previously taken abacavir without a reaction before but have never been tested for HLA-B*5701, you should still be tested before taking abacavir again.
• If you and your doctor decide that the benefits of starting abacavir outweigh possible risks, then you should watch for any sign described on the warning card. Abacavir HSR may include a combination of the following symptoms: fever, rash, generally ill feeling, extreme tiredness or achiness, gastrointestinal symptoms (nausea, vomiting, diarrhea or stomach pain), and respiratory symptoms (shortness of breath, cough or sore throat). If you develop a combination of any of the symptoms or signs of a reaction that are listed above, then you should contact your doctor immediately.

According to statistics from the Centers for Disease Control and Research, there are 233,079 HIV-infected people in the U.S., and 448,871 people were living with AIDS at the end of 2006. Between 5% and 8% of HIV-infected patients are positive for HLA-B*5701.

• To see the full FDA Label for Abacavir and other info from FDA for medical professionals: go to this page and click on the second link, “Prescribing (Label) Information from Drugs@FDA”
• If you are looking for HLA-B*5701 testing, DNA Direct can coordinate testing for you and your doctor: call our Clinical Services Department at 1-877-646-0222 or email expert@dnadirect.com.

Last week, NPR’s “Morning Edition” did a story on the way companies and entrepreneurs are beginning to develop and market products tailored to the genetic makeup of individual patients.

Notably, the story featured Iverson Genetic Diagnostics and their test for warfarin sensitivity. Warfarin (brand-name Coumadin®) is a commonly used blood-thinner, but doctors often have a hard time finding the right dose for patients. Too little and it’s not effective. Too much and it can cause dangerous bleeds. As Trish wrote in the previous post, last year FDA updated the label on warfarin to recommend genetic testing to determine the appropriate dosage.

Iverson Genetic Diagnostics, is one of DNA Direct’s partners. Iverson offers physicians DNA Direct’s customized, Web-enabled tool for physicians. This tool gives doctors who are testing their patients for warfarin sensitivity, DNA Direct’s Personalized Reports for their patients. These reports explains patients’ test results in a clear, plain, interactive format. They are personalized to each patient’s actual test results, and explain what the results mean in terms of warfarin dosing, They also describe how genes affect drug response, and outline the most appropriate next steps.

In addition, doctors can download a copy of their patient’s lab report and a clinical summary letter. In turn, patients may return to their online report at a later date to determine how their “metabolism status” may impact drug response for other medications.

”Morning Edition” note that that genetic testing is on the rise for response to drugs that treat diseases like cancer and AIDS. Experts say that genetic testing holds tremendous promise to improve healthcare—and accordingly, the space is filling with entrepreneurs such that the $2 billion DNA testing industry poised to grow from to $15 billion in the next ten years.

At DNA Direct, we believe this growth reflects continued progress toward a truly personalized approach to medicine, and we were pleased to see warfarin testing—an important tool to properly determine treatment—and Iverson highlighted as a bellwether in the field.

Guest post from Trisha Brown, MS, CGC, DNA Direct’s VP of Clinical Affairs:

FDA announced last year that the agency would update the label for the blood thinner warfarin to note that patients’ genetic makeup could strongly influence their response to the drug. Too high a dose of warfarin, and patients may experience uncontrolled bleeding—which can be fatal; too low, and patients risk developing life-threatening blood clots. Correct dosing is imperative for administering warfarin, which is the second most common drug, after insulin, implicated in emergency room visits for adverse drug events (1).

Now, the question is whether Medicare should cover the cost of genetic testing to identify the two genes that can affect patients’ reactions to warfarin. The outcome will be momentous and far-reaching: whatever the verdict from the Centers for Medicare & Medicaid Services (CMS), major private insurance companies are likely to follow suit. This week, CMS called for public comment on their decision.

Since FDA’s labeling change, there has been some debate among experts on using genotyping to prevent a significant number of adverse reactions to warfarin, or simply following the patient’s progress using a lab test that checks on how well the blood is clotting, called an INR (international normalized ratio) and adjusting accordingly. The latter view comes largely from thought leaders who work in major medical centers with distinct advantages: physicians can develop best practices; can use a single lab to assess the INR; and effectively communicate dosing changes and recommendations across a single healthcare team. (more…)