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).

The ABCs of Chromosomal Microarray. Explains features of chromosomal microarray, including how the test works, what it detects, common indications, and considerations in results interpretation.

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.

Cancer Genetic Services in Maine and Connecticut Tool. Lists available cancer genetic services in Maine and Connecticut.

Genomic Technologies for Oncologists eBook. Provides an overview of genomic technologies used in cancer research and clinical care (enhanced e-book available for download).

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.

Informed Consent Checklist. Outlines key points to include in pretest counseling that help prepare an individual for the potential outcomes of genetic testing.

Online Courses

Free, self-directed programs for continuing education credit.

Pretest Decisions and Counseling

Practice deciding when and if genetic testing is appropriate given a patient's clinical and personal context.
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Interpreting Genetic Testing Results

Practice interpreting genetic testing results within a patient's specific context.
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Genetic Testing Technology

Practice weighing the benefits, risks, and limitations of different tests within specific patient contexts.
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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.
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Genetic Testing for Colorectal Cancer Risk

Practice evaluating the fit between a patient's history and a particular genetic test for hereditary colorectal cancer syndromes.
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Precision Medicine for Your Practice: Expanded Carrier Screening

Practice facilitating shared decision making and interpreting results for expanded carrier screening with case based scenarios.
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Precision Medicine for Your Practice: Prenatal Cell-Free DNA Screening

Learn about the benefits and limitations of cell-free DNA screening in prenatal care.
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Precision Medicine for Your Practice: Exploring Somatic Cancer Panel Testing

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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Precision Medicine for Your Practice: Interpreting Results from Somatic Cancer Panels

Learn how to identify important test characteristics, compare and contrast offerings from different labs, find actionable information on the test report, and interpret results in the context of the individual patient.
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