Genetic testing resources for healthcare providers
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).
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).
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.
Free, self-directed programs for continuing education credit.
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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GINA protects individuals from the misuse of genetic information in health insurance and employment. These case studies provide context for...
Core principles that should constitute basic instruction in genetics for those in health care.
GINA protects individuals from the misuse of genetic information in health insurance and employment. This overview provides information...
One of the most significant scientific advances of the last ten years, organoids have revolutionized research across several fields, and...
Family history resources for healthcare providers.
The microbiome plays a vital role in our health and wellbeing. Now researchers are using sequencing technology to better...
Prenatal genetics resources for healthcare providers.
Machine learning platforms can be fed data to "teach" them to learn patterns and predict outcomes, and they are becoming...
Genome editing has great potential to eliminate genetic diseases from a family's germ line, but it could also fundamentally...
Teaching the Genome Generation™ is a one-week professional development short course for STEM teachers.
Resources about ethical, legal, and social issues (ELSI) related to genetics and genomics in clinical practice.
For many, testing provides a window into their innermost self, their genome, and a new way to learn about themselves.
The health and genetic quality of research mice significantly impact the quality of research data. Join this webinar to...
New England science teachers are offering opportunities to young scientists interested in learning more about genomic...
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