Tag: genetic testing

Continuing Genetic Counseling Helpful for Silent HCM Gene Carriers

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An article entitled Psychosocial Impact of a Positive Gene Result for Asymptomatic Relatives at Risk of Hypertrophic Cardiomyopathy was published in this week’s Journal for Genetic Counseling.

The article focuses on the motivation for and the impact of HCM genetic testing on family members.  The 32 participants in the study all encouraged family members to undergo genetic testing with the hope that the knowledge gained would benefit family members down the line.  However, the study found that the psychological impact of a positive result, in the absence of overt disease, was highly variable. Some gene positive individuals perceived that they had an absolute risk of developing HCM, with substantial detriment to their lifestyle choices, while others were not at all affected by the result and made no lifestyle changes.

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Greater Certainty in Genetic Testing Results at HCM Specialty Centers

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A recent study published by members of the SHaRe Cardiomyopathy Registry found that genetic test results for HCM are more definitive and helpful to patients when testing has been carried out at a high volume HCM center – especially a center that shares genetic data with other HCM centers. 

Continue reading “Greater Certainty in Genetic Testing Results at HCM Specialty Centers” →

Could it be Non-Genetic HCM?

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When a patient is the only person in the family ever diagnosed with HCM, s/he will often wonder whether their disease is, in fact, genetic.  S/he will also wonder whether it will be necessary for all first degree relatives to undergo serial screenings for the rest of their lives.

In answer to this concern, Australian researchers have recently identified a subset of HCM patients who appear to have a non-familial form of the disease and whose relatives may be candidates for less stringent screening protocols.

The study, just published in Circulation: Cardiovascular Genetics by Dr. Jodie Ingles and Dr. Chris Semsarian, found that this group, having neither genetic mutation associated with HCM nor family history of HCM, comprises approximately 40% of all HCM patients. Non-familial HCM patients are more likely to be older when diagnosed, and they often present with non-asymmetric hypertrophy and hypertension.  And, these HCM patients appear to have a more favorable clinical course, with a better track record of survival from major cardiovascular events.

The researchers point out that by sorting patients into more distinct subgroups, doctors will be able to provide more personalized and evidence-based care to patients and their families.  In particular, their recommendation is that first-degree relatives of non-familial HCM patients need only be screened one or more times in adulthood.  Less frequent follow up surveillance is also suggested, in contrast with the more intensive screening guidelines recommended for family members of patients with familial HCM.

 

 

 

Cincinnati Children’s Blog Answers Questions About Genetic Testing for Cardiomyopathies

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This informative blog article about genetic testing features practical advice about genetic testing and is taken from answers provided in a live presentation by Drs. John Jefferies and Ivan Wilmot.

Issues addressed include: how the test is administered, insurance issues related to the test and the meaning of a positive genetic test.

 

 

Duchess Kate’s Sister, Pippa, Supports British HCM Charity

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Pippa Middleton, who came to the public’s attention during the wedding of her sister Katherine to Prince William, has recently dedicated her efforts toward raising money for HCM genetic testing and research.  Middleton’s efforts are in honor of her late friend Miles Frost, who was lost to sudden cardiac arrest due to HCM in 2015. Frost’s father, British journalist and media personality David Frost, died from HCM just two years earlier in 2013, but this information was never communicated to the family.

The Miles Frost Fund, a partnership with the British Heart Foundation , helps families who have lost a member to a sudden death obtain genetic testing in order to learn if other family members are similarly affected. The Frost Fund also funds research by U.K.researchers working towards finding a cure for HCM.

Lack of Diversity in Gene Samples May Cause False HCM Diagnosis

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A recent study published in The New England Journal of Medicine concluded that individuals of African descent found to carry genes previously identified with HCM did not, in fact, have the disease.  Thus, the article highlighted the importance of including diverse populations when sequencing genomes for genetic diseases so as to avoid false diagnoses.

The New York Times also picked up this story, focusing its article on the negative repercussions that can result from a false positive genetic test for HCM.

In connection with the findings, National Public Radio interviewed three people, including Dr. Isaac Kohane, one of the researchers who published the findings of the lack of diversity in the HCM genetic panel, as well as New York City HCM patient Tarika Mingo.  Finally, NPR spoke to veteran HCM expert Dr. Barry Maron, who noted a potential concern that athletes may have been erroneously disqualified from sports participation solely on the basis of false positive genetic testing results.

See also this story in the Wall Street Journal.

Severe Pediatric Cardiomyopathy Causing Gene Identified

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A recent article in Science Daily discussed findings of geneticists in the Netherlands which revealed the existence of  a mutation in the gene alpha-kinase 3 (ALPK3) which, if inherited from both parents, may cause severe cardiomyopathy in children.

Cardiomyopathy U.K. recently featured this story on their website.

See here for study.

 

 

Causes of SCD Identified Using Genetic Testing

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According to a recent study by doctors in Australia and New Zealand, unexplained sudden cardiac deaths in children and adolescents can often be explained through the use of genetic testing.