The ASHA Leader - February 2015 - (Page 29)

overHeArd diseases should make it on that list? It's still an ongoing debate within the field and I think it will take some time to identify what will be best for clinicians and patients in terms of data return. Another concern with patients is related to discrimination based on genetic information related to employment or health insurance- however, this has been addressed by Congress through several laws that prohibit the use of genetic information for this purpose. Mary Violanti: In practice, is genetic testing for hearing loss usually only requested for pediatric patients? For adult patients with acquired hearing loss and/ or vestibular problems, [are there] any red flags that suggest a genetic test panel would be a good idea? aMr: From the clinical laboratory side, we do see more genetic testing being requested for pediatric patients, often to follow up on a newborn screen and/or a family history of hearing loss. I think a reason for this may be related to the fact that congenital hearing loss has a greater chance of having a genetic cause and is often more severe than adult-onset hearing loss. However, there are several genes that cause late-onset hearing loss, with variable penetrance and expressivity, and may manifest with additional clinical features. I discussed KCNQ4 in the presentation, which manifests with a later-onset hearing loss and is inherited in an autosomaldominant fashion; genetic testing in this case can inform family members of their risk for developing hearing loss, progression of disease, and risk for children. Another one that comes to mind is variants in WFS1 that cause autosomaldominant hearing loss that has a later onset and may affect mid-frequencies or, more commonly, low frequencies. However, in some families, variants in WFS1 may also cause additional phenotypes such as lateonset diabetes and/or optic atrophy. And for individuals that inherit two WFS1 mutations from both parents, they may manifest with Wolfram syndrome, which is characterized by juvenile onset of diabetes, optic atrophy and hearing loss. So there is certainly a lot of utility in testing if genetics is suspected in individuals with adult-onset hearing loss. Sami amr, PhD, is an American Board of Medical Genetics-certified clinical molecular geneticist. He is director of the Translational Genomics Core at the Partners Healthcare Center for Personalized Genetic Medicine in Boston and assistant director at Partners Healthcare's Laboratory for Molecular Microbiology. He is involved in development, validation and reporting of clinical genetic tests across a variety of disease areas, with a focus on hearing loss. samr@partners.org · Join the over 14,000 speech clinicians in 62 countries who are offering LSVT LOUD treatment! Lee Silverman Voice Treatment Evidence-Based Voice Treatment for Parkinson's and Other Neural Conditions LIVE CERTIFICATION Hamarville, PA Jacksonville, FL Minneapolis, MN Austria Mar 5-6 Mar 13-14 Apr 17-18 Apr 17-18 ONLINE CERTIFICATION * Oﬀers same content as LIVE course * Learn at your own pace * Group courses available See www.lsvtglobal.com for complete listing "One of the best online courses I have ever taken. Good combination of learning materials and videos." - Linda Boeshart, Online LSVT LOUD Workshop Attendee STAY CONNECTED 1.888.438.5788 | www.lsvtglobal.com | info@lsvtglobal.com Le Ader .PuBS. ASHA .orG 29 http://www.lsvtglobal.com http://www.lsvtglobal.com http://www.lsvtglobal.com http://LeAder.PuBS.ASHA.orG

The ASHA Leader - February 2015

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