Genetic testing resources for health professionals
Genetic testing refers to a broad range of applications from family history collection and assessment to whole genome screening. Each test has its own benefits and limitations based on both the specific technology used and the indication for the test. The resources below explore different types of genetic testing and their applications.
Pretest Counseling Key Points Factsheet. Outlines key points to address during pretest counseling.
Nomenclature Factsheet. Defines terms and abbreviations commonly used by laboratories to describe variants.
Results Interpretation Tool. Provides a table to help interpret positive, negative, and uncertain results from cancer genetic testing.
Genetic Testing Methods eBook. Provides information about different genetic testing methods currently used in testing for hereditary cancer syndromes (enhanced e-book available for download).
Communicating Risk Factsheet. Outlines key points to consider when communicating risk to patients.
Components of a Cancer Genetic Counseling Session Factsheet. Discusses the core components of a cancer genetic counseling session.
Accessing Genetic Services Tool. Lists tools and websites to help find genetics professionals and provides patient talking points about referring to genetics.
GINA Discussion Guide. Provides talking points and key information about genetic discrimination and the Genetic Information Nondiscrimination Act (GINA), which protects individuals from the misuse of genetic information in health insurance and employment.
Communicating with Family Factsheet. Provides tips for the provider to assist in family communication about genetic testing and risk.
Free, self-directed programs for continuing education credit.
Practice deciding when and if genetic testing is appropriate given a patient's clinical and personal context.
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Practice interpreting genetic testing results within a patient's specific context.
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Practice evaluating how well a particular genetic test assesses breast cancer risk and the potential impact of testing on patient outcomes.
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Practice facilitating shared decision making and interpreting results for expanded carrier screening with case based scenarios.
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Learn about the benefits and limitations of cell-free DNA screening in prenatal care.
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Learn how to determine when somatic cancer panel testing is appropriate for your patients and how to interpret results of such testing.
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Learn when additional cancer biomarker testing is indicated for further evaluation of genome-informed therapy.
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Christine Beck and Peter Audano are at the forefront of research involving long-read sequence data. They are particularly...
A look into Beth Dumont's work with JAX, tracing her time from summer student to an associate professor on the JAX faculty.
JAX scientists are working to make it more feasible for researchers to incorporate diverse background genetics to better model human...
JAX researchers have developed a potential new treatment for dilated cardiomyopathy (DCM), a sometimes fatal heart condition that affects...
A team led by David Serreze presents a mouse model for studying severe immune checkpoint inhibition-based damage to heart and skeletal...
JAX is proud to announce Takeshi Iwasaki, M.D., Ph.D., and Morgan Severn, Ph.D., as the 2024 JAX Scholars.
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