The Rare Disease Translational Center at JAX is spearheading efforts to bring targeted therapies for rare disease from lab to clinic. However, limited genomic literacy among healthcare providers can restrict patient access to these cutting-edge rare disease diagnosis strategies and therapies, as clinicians are key to bridging research breakthroughs to patient care. To address this knowledge gap, the Clinical Education Program at JAX supports translational rare disease research by providing healthcare professionals with the skills needed to diagnosis rare disease and use targeted treatments.
Primary care providers are on the front line for detecting individuals with rare disease, and are often the best opportunity for an early diagnosis. To lower barriers to learning for busy clinicians, our courses are free, available on-demand, and credit-bearing.
These resources support clinical testing and diagnosis of rare disease in the clinical setting.
Outlines the important things to discuss with patients and families before referring to genetics.
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Summarizes patient care and management steps for patients with positive, negative, uncertain, and unexpected results from genomic testing.
View morePretest counseling is crucial for patients considering hereditary genetic and genomic testing, as it aids in informed decision-making. Key discussion points include the purpose and scope of the test, potential benefits, risks, and limitations, as well as confidentiality and genetic discrimination protections. Patients should understand the implications of possible results, the role of testing for family members, and practical aspects like cost and insurance.
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Summarizes genetic variant classification and analysis methods for clinicians.
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Provides a quick reference for the detection capabilities for common types of genetic testing, such as gene sequencing and deletion/duplication analysis.
View moreOur mission is to support the integration of genetics and genomics for improved patient care through clinical education.
Contact [email protected] to discuss opportunities to collaborate on clinician education needs, clinical presentations, clinical research initiatives, and any other projects that involve educating clinicians.