Accessing and using genetic information clinically can raise unique ethical, legal, and social concerns, generally known as ELSI. For example, unlike most other types of medical information, identifying a genetic variant in a patient may also diagnose his or her close relatives with the condition without them ever agreeing to testing. Recognizing what these issues may be in a specific situation provides the opportunity to discuss them directly with patients and identify ways to address them. The resources below discuss ELSI issues, their clinical implications, and ways to discuss them with patients.
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Practice deciding when and if genetic testing is appropriate, given a patient's clinical and personal context.
Provides information about the federal law that protects individuals from the misuse of genetic information in health insurance and employment.
Pretest 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.
Patients and families often have varied emotional responses to genomic testing results, which can be positive, negative, uncertain, or unexpected. Positive results may bring relief but also complex feelings like stigma or guilt, while uncertain or unexpected findings can be challenging, especially if they reveal unrelated health risks or misattributed family relationships. A diagnosis, whether desired or unexpected, raises questions about medical management and social issues, affecting family dynamics.
Risk communication should be personalized to each patient, considering both qualitative and quantitative assessments. Qualitative risk categorizes individuals into high, moderate, or average risk based on hereditary and personal factors, while quantitative risk uses statistics like relative and absolute risk to provide a clearer picture. Patients often find absolute risk more meaningful, as it reflects the likelihood of developing a disease over time.
With November designated as Family Health History month, clinicians are sure to have seen lots of messaging encouraging their patients to discuss family health history around the holiday table. But what if there is no family history to be gathered?
Consider this scenario: Jayne is 50 years old and has experienced progressing neurological symptoms over the past two years with no diagnosis. She recently had exome testing which show no genetic variants that explain her symptoms, but identifies a pathogenic variant (mutation) in MSH6.