Webinar information
Adolescents and Adults Seen in Neurology: Which Genetic Tests are a Good Fit?
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Genetic testing is available for a wide array of neurological conditions. It is not uncommon for adolescent and adult patients to present in clinic with previous genetic testing that was inconclusive. Determining the best test for a patient will be partly determined by previous testing, patient clinical picture, family history, and genetic etiology for a suspected condition. Based on these factors, testing can be focused to a more targeted testing or opened to a broader search.
In this webinar, Senior Geneticist Kirsty Wells, PhD, and Genetic Services Consultant Rachel Goldberg, MS, CGC, will first discuss considerations for adolescent and adult patients who may have had genetic testing prior to being referred to neurology, such as what previous genetic testing could have ruled out, and which genetic tests are best to optimize results. Then, three cases outlining various routes for genetic testing, and how they revealed answers for these patients, will be reviewed and discussed. At the end of the webinar there will be an opportunity for a Q&A where those listening live can submit questions.
Webinar Objectives:
- Discuss best practices for reviewing a patient’s previous genetic testing
- Examine previous testing, patient clinical picture, family history, and genetic etiology for a suspected condition can help determine which genetic test is a good fit for a patient
- Gain further understanding of the benefits and limitations of panel testing (specific genes) vs more comprehensive testing such as whole exome sequencing
- Share cases that exhibit the utility of additional genetic testing after the patient has had a previous negative genetic testing result
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Speakers
Kirsty Wells
Kirsty Wells, PhD, is a Senior Geneticist at Blueprint Genetics, specializing in interpretation of ophthalmology panel and whole exome sequence data. She has a background in both research and diagnostics. Before joining Blueprint in 2018, Kirsty completed PhD and postdoctoral research fellowships, and undertook in-depth training in genetic diagnostics in the UK’s National Health Service. Kirsty is a UK-certified Clinical Scientist.
Rachel Goldberg
Rachel Goldberg, MS, CGC, attended graduate school at Long Island University (MS in Genetic Counseling). She previously worked as a pediatric, adult, and laboratory genetic counselor in both direct and non-direct patient care roles. Currently, she is a Genetic Services Consultant at Blueprint Genetics based in Seattle, WA.