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

To celebrate DVT Awareness Month, I asked the fabulous Elizabeth Varga for an interview. Liz has factor V Leiden, an inherited blood clotting disorder, and she has worked tirelessly to raise awareness about blood clots and thrombophilias, educating both patients and medical professionals. Liz is also a board-certified genetic counselor at Columbus Children’s Research Institute, where she also develops health promotion programs for the blood clotting disorders community.

Here is the first part of our interview. Stay tuned for more!

1. Can we talk about your personal life first? How did you learn you had factor V Leiden? How did it impact your personal and professional life?

Sure, I am always happy to share my story. My factor V Leiden story actually started with my mom. In 1999, she was traveling and hiking when her leg became painful and red. When she felt her leg, it felt like there was a large rope running down the inside of her thigh. She soon learned she had “superficial thrombophlebitis”; basically a blood clot running through the outer veins in her leg. She didn’t have to have any treatment for this, besides resting and taking pain killers. But when her doctor interviewed her, he learned that her father had had several similar episodes. It was then that he recommended testing for several clotting disorders. A couple weeks later, she learned she was heterozygous (had 1 copy) of the factor V Leiden mutation.

At the time, I was in college, so I didn’t know much about the incident. However, on a visit back home, I met with my family doctor for a checkup and she started to talk to me about the gene found in my mom. She told me that she had a colleague also had factor V Leiden. This woman had had a stroke at the age of 40; it was later learned that her colleague had a hole in her heart (called a patent foramen ovale or PFO) and that a small clot had developed in her leg veins that traveled to her brain.

My doctor also told me about birth control pills and how they could interact with factor V Leiden. She said she would recommend that I discontinue taking the pill if I tested positive. So, I decided to take the genetic test and go from there. (more…)

Familial Dysautonomia, also called FD, is a neurologic disorder characterized by episodic vomiting, abnormal sweating, pain and temperature insensitivity, an inability to produce tears, scoliosis, and abnormal feeding and sucking difficulties. This disease is found almost exclusively in Ashkenazi Jewish families.

• 1 in every 36 Ashkenazi Jews is a carrier of FD – and the disease is almost exclusively found in Ashkenazi Jewish families.
• When two carriers have a child together, there is a 1 in 4 chance the child will have Familial Dysautonomia. (See autosomal recessive inheritance)
• Genetic testing, also called “carrier screening”, is available to determine if you are a carrier of FD. This test has a detection rate of 99%.
• A single mutation on the IKBKAP gene on chromosome 9 accounts for most cases of FD.
• The only treatments available for FD treat the symptoms of the disease. Though the treatments cannot cure FD, they can improve the length and quality of a patient’s life.
• Resources for families with FD: FD Hope, National Dysautonomia Research Foundation, Dysautonomia Treatment and Evaluation Center, Dysautonomia Foundation, Inc.
• Why certain genetic conditions are found almost exclusively in certain ethnic groups: the “founder effect” and “beneficial mutation” theory.
• More posts about Ashkenazi Jewish genetic conditions

Technorati Tags: familial dysautonomia, ashkenazi jewish diseases, carrier testing, genetic testing, genes, inheritance patterns, symptoms, treatment, resources

Here are fast facts about Gaucher Disease, the most common genetic condition in Ashkenazi Jewish people.

• 1 in every 18 Ashkenazi Jews is a carrier for Gaucher disease.
• Carriers are unaffected, but when two carrier have a child, they have a 1 in 4 (25%) chance of having a child with Gaucher disease.
• Gaucher disease mainly affects the spleen, liver, and bones, and occasionally the lungs, kidneys, and brain. This disease can range in severity from mild to chronic.
• Symptoms of Gaucher disease can develop at any age, but they frequently begin during adolescence and early adulthood.
• The most common symptom is chronic fatigue caused by anemia. People may experience easy bruising, nosebleeds, bleeding gums, and prolonged and heavy bleeding with menstruation and after childbirth. (more…)

Last fall I posted on Ashkenazi Jewish genetic diseases, a number of inherited diseases that occur primarily in people of AJ descent (as a result of the “founder effect“). AJ diseases are commonly known about within the AJ community, but many non-Jewish people are completely unaware of them.

As a result of carrier screening (the ability to test parents-to-be to see if they carry a mutation for the conditions), the actual rates of individuals affected with these disease is dropping. That’s the good news. That people who are appropriate for testing don’t know about testing is the bad news. (My rant on that will have to wait until next week, when the Week of Science challenge has ended)

So here’s the skinny on how these disease are inherited, why people are “silent” carriers, and why carrier testing works:

(more…)

In an earlier post, I talked about Ashkenazi Jewish diseases in general. Now let’s turn to one disease in particular, Tay-Sachs, which is a disease that sadly claims the lives of children under the age of 5.

Tay-Sachs more frequently arises in children with Ashkenazi Jewish ancestry because of the increased likelihood of people in this population to be carriers. Within the general population, only 1 in 300 people are carriers of Tay-Sachs disease, while within the Ashkenazi Jewish population, 1 in 30 people are carriers.

Though it is not curable, Tay-Sachs is preventable through carrier testing when a couple is planning a pregnancy. (more…)

Almost every ethnic or demographic group has higher rates of certain genetic diseases than the general population. There are a number of genetic conditions that are relatively unknown, but terribly debilitating – and all occur most frequently in people with Ashkenazi Jewish ancestry:

• Bloom’s Syndrome
• Canavan Disease
• Familial Dysautonomia
• Fanconia Anemia
• Gaucher Disease
• Mucolipidosis IV
• Niemann-Pick Disease
• Torsion Dystonia
• Tay-Sachs Disease

How is it possible that certain diseases are more common within the Ashkenazi Jewish population? (more…)

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

Why be aware of cystic fibrosis? As many as 1 in 25 people in the US is a CF carrier. And that’s a pretty high carrier rate for a condition that most people don’t know about.

Cystic fibrosis, or CF, is an inherited disease that affects the lungs, digestive system, sweat glands, and male fertility. If you are pregnant - or thinging about getting pregnant - you should know about CF.

You might be suprised to know:

• A simple genetic test can help you find out if you are a carrier. If you are, you can figure out your chances of passing on that CF mutation to a child. If your partner is also a carrier, you have a 1 in 4 chance of having a child with CF.
• CF occurs in all ethnic groups, but people with European or Ashkenazi Jewish ancestry are more likely to be carriers than others.
• CF mutations can be passed down “silently” for many generations, without anyone in the family ever having CF.
• This is why medical guidelines say that everyone who is pregnant or planning a pregnancy — and everyone with Caucasian ancestry — should be offered CF carrier screening.
• In rare instances, people with frequent lung infections or chronic sinusitis are diagnosed late in adulthood as having CF. (Most people don’t hear about “mild” CF.)
• There are over a 1000 known CF mutations, and scientists are learning more about what they mean every day. Treatments are continually in development, and people with CF are living longer and healthier lives than before.

Want to learn more or spread the word about CF? The Cystic Fibrosis Foundation is a great resource that has been providing information, support and advocacy for 51 years. (Here are more resources.) Looking for support? The Lawrences are a family blogging about their experiences of raising their children, including a daughter with CF.

Technorati Tags: cystic fibrosis, CF, carrier screening, genetic testing, pregnancy, disease