Other Studies Assess Pros and Cons of Testing, How Genetic Counselors Can Help


SEATTLE – Sept. 28, 2016 – Elite athletes with an inherited heart condition aren’t the only ones who have a difficult time adjusting to doctors’ orders to avoid intense and competitive exercise to reduce their risk of sudden death, suggests a new study being presented at the National Society of Genetic Counselors (NSGC) 35th Annual Education Conference. Active adults with the diagnosis also find it challenging, and the more athletic they see themselves, the more likely they are to be distressed by exercise restrictions, the research found.

A related study found that athletic people with these conditions who admit to exercising more intensely than recommended do so because it is such a vital part of their lives, and some believe their risk of sudden death is low, or manageable. Some falsely believed that medication and diet modifications would protect them from sudden death, researchers found.

“These studies underscore the importance of having ongoing conversations with people who have inherited conditions so that they fully understand the implications and how it might affect their lives,” said Jehannine C. Austin, PhD, MSc, Certified Genetic Counselor (CGC), president of the National Society of Genetic Counselors. “Genetic counselors work with doctors to help people understand how to follow these recommendations and why it’s important to do so.”

While research on coping with exercise recommendations for inherited heart disease has focused on young, elite athletes, most athletic individuals with inherited heart conditions are not professional or varsity athletes. The first-of-their-kind studies, conducted at Stanford University, set out to better understand the psychological impact and thought process in this population.

One study included 54 athletic adults who had hypertrophic cardiomyopathy (HCM), in which the heart muscle is thicker than it should be, potentially leading to heart rhythm problems and sudden cardiac death. More than two-thirds (69 percent) felt the exercise recommendations were stressful or hard to adjust to. The restrictions also changed their perceptions of themselves. While 43 percent self-identified as athletes prior to diagnosis, only 15 percent did so after diagnosis. Consistent with that change in perception, the amount of time they exercise dropped – from an average of 6.2 hours a week before diagnosis to 4.7 hours a week after – and they found the change difficult.

The second study looked at 15 athletes with HCM or long QT syndrome (LQTS) – an inherited heart rhythm condition that can cause an irregular heartbeat – who admitted to continuing to exercise more than recommended. Nearly all said they made some modifications to their regimen, but didn’t restrict their exercise as much as recommended. Some played sports they were told not to (such as basketball for HCM patients or swimming for those with LQTS), but not as intensely as they used to. Others did activities more strenuously than recommended. Almost all said their family and friends were mostly supportive of their choice to continue to exercise at higher levels than recommended, although some loved ones expressed concerns.

“Even those who wanted to follow their doctors’ orders said they struggled with the recommendations because they were not specific enough,” said Colleen Caleshu, MS, CGC, lead genetic counselor and clinical assistant professor at Stanford Center for Inherited Cardiovascular Disease, Stanford, Calif. “Clinicians should thoroughly discuss exercise recommendations not only at the initial diagnosis but at follow-up appointments and offer ongoing guidance to help patients cope with a difficult diagnosis.”

In other news from the meeting:

People Who Don’t Report Jewish Ancestry May Still be Carriers of Certain Conditions

A new study suggests that all women who are pregnant or thinking about becoming pregnant should be offered screening to see if they are carriers of a wide variety of genetic conditions, including those typically associated with a specific ethnic background. The study found more than half of people screened for conditions associated with Ashkenazi Jewish descent do not report any Jewish ancestry.

People with Ashkenazi Jewish ancestry (meaning they are of central or eastern European Jewish descent) typically are offered genetic testing to determine if they carry a mutation for one of nine specific conditions associated with that ethnic background, including Bloom syndrome, Gaucher disease, Tay-Sachs and familial dysautonomia. Being a carrier means the person will not develop the disease, but can pass on a gene with the mutation to any children. A child would be affected by the disorder if he or she inherited a mutation for the same condition from both parents.

In the study, 22,868 people were screened for a variety of genetic conditions, including the nine conditions for which testing typically is only offered to people of Ashkenazi Jewish descent. Of that group, 2,814 were identified as carriers of one of the nine conditions, yet 54 percent of them did not report Jewish ancestry. Specifically, 38 percent of Bloom syndrome carriers, 32 percent of Gaucher disease carriers and more than 15 percent of both Tay-Sachs and familial dysautonomia carriers were non-Jewish. Researchers said some may not have been aware of Jewish ancestry and others many not be of Jewish descent.

“Our study suggests that screening for a wide variety of ethnic conditions may be the best way to identify carriers and therefore couples at risk of having an affected child,” said Sarah Yarnall, MS, CGC, medical communications manager for Recombine, New York. “Using the historic guidelines of screening based on ethnicity does not appear to be as accurate as we thought. There may be other genetic conditions that have been tied to specific ethnicities over the years, but people may be unaware of their ancestry as a whole, and healthcare providers wouldn’t think to screen them for conditions that may be present.”

Pediatric Cancer Clinicians Look to Genetic Counselors to Interpret Gene Test Results

A new study from St. Jude Children’s Research Hospital in Memphis, Tenn., suggests that healthcare providers who treat children with cancer may struggle with interpreting and reporting results of genomic tests to families. In addition, the providers report wanting guidance from experts such as genetic counselors.

Children with new or recurring tumors treated at St. Jude are offered clinical genomic testing to help providers and researchers learn what genetic changes lead to the development of tumors. This information may also help providers determine what treatments work best as well as identify individuals with an increased risk for developing cancer due to a hereditary syndrome.

In the study, 86 pediatric oncologists, other physicians, nurse practitioners and physician assistants filled out a 20-question survey to assess their confidence in interpreting genomic sequencing results. Only 28 percent said they were confident in interpreting the results. Ninety percent said they would like to speak to a genetic counselor prior to discussing the results with parents and 65 percent said they would like a genetic counselor to be present during these discussions.

“Genetic research and testing is advancing quickly and oncologists are often too busy to dedicate time to fully understand and explain genomic results or follow through with family management,” said Emily Quinn, MS, CGC, genetic counselor at St. Jude. “Genetic counselors have specific expertise in explaining complex genetic information to families, which is helpful when telling these families the results.”

Prenatal Testing May Delay Bonding with Fetus

Women who undergo non-invasive prenatal testing (NIPT) often try to distance themselves from the pregnancy and delay bonding with the fetus until they feel reassured that their baby does not have a chromosomal condition, according to a new study from the University of British Columbia, Vancouver.

Researchers interviewed 11 women who chose not to have prenatal testing and 16 who had testing to ask them about their experience with maternal-fetal bonding. Many who had testing said they tried not to bond with the baby while awaiting results. Researchers found there was about a one week delay after receiving reassuring results before the women were able to resume bonding with the baby. Those who had planned to terminate the pregnancy if they received negative results were most likely to experience a pause in maternal-fetal bonding. Ultimately, none of the fetuses were determined to have chromosomal conditions, and women who choose prenatal testing were as likely to achieve a strong maternal-fetal bond by the third trimester as those who chose not to test.

“It’s important for healthcare providers to understand the psychological impact of prenatal testing on bonding with the fetus,” said Catriona Hippman, MSc, CGC, clinical assistant professor of the University of British Columbia Department of Psychiatry. “Women often choose to have genetic screening tests in pregnancy simply because it’s offered and they think the doctor wants them to. Ideally, doctors should help patients think carefully about genetic screening to understand the process and determine what they want to achieve in testing.”

About the National Society of Genetic Counselors

NSGC is the leading voice, authority and advocate for the genetic counseling profession, representing more than 3,500 health care professionals. The organization is committed to ensuring that the public has access to genetic services. For more information, visit www.nsgc.org.

NSGC Media Contact:
Jennie Szink
Public Communications Inc.

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