Genetic Testing

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.

Clinical Resources

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.

Ethical, Legal and Social Issues

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. 

Online Courses

Free, self-directed programs for continuing education credit.

Cancer Pretest Decisions and Counseling. Practice deciding when and if genetic testing is appropriate given a patient's clinical and personal context.

Interpreting Cancer Genetic Testing Results. Practice interpreting genetic testing results within a patient's specific context. 

Genetic Testing for Breast Cancer Risk. Practice evaluating how well a particular genetic test assesses breast cancer risk and the potential impact of testing on patient outcomes.

Precision Medicine for Your Practice: Expanded Carrier Screening. Practice facilitating shared decision making and interpreting results for expanded carrier screening with case based scenarios.

Precision Medicine for Your Practice: Prenatal Cell-Free DNA Screening. Learn about the benefits and limitations of cell-free DNA screening in prenatal care.

Precision Medicine for Your Practice: Exploring Cancer Biomarker Testing. Learn about benefits, limitations, and challenges of using cancer biomarker testing.

Precision Medicine for Your Practice: Interpreting Cancer Biomarker Testing – When is Additional Testing Needed? Learn when additional cancer biomarker testing is indicated for further evaluation of genome-informed therapy. 

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