Return of Genetic Results

This first module lays the groundwork for the course by explaining what DNA is, how genetic variants are classified, and the main methods used to detect them. It introduces genotyping and sequencing technologies, compares their strengths and limitations, and shows how they are applied in Parkinson’s research.

This module focuses on how to read and interpret genetic testing reports in the context of returning results. It explains report structure, outcome types (positive, uncertain, negative), and the criteria used to assess variants—such as frequency, family segregation, and functional evidence. It also highlights pitfalls like reduced penetrance, phenocopies, or overinterpretation, emphasizing careful evaluation, ongoing re-analysis, and clear communication with patients and families.

This module explains the differences between clinical-grade and research-grade genetic testing in the context of Parkinson’s disease. Clinical testing is used in healthcare to provide accurate diagnoses, guide treatment, and support counseling, while research testing helps uncover new genetic causes and expand scientific knowledge but is not always directly useful for patients. It also discusses real-world cases where research findings were validated and returned to families.

This module focuses on the informed consent process for returning genetic results in research. It explains how consent goes beyond a signature, ensuring participants understand the study, its risks, benefits, and their rights (including voluntary participation and withdrawal). It also covers special considerations like privacy, data protection laws (HIPAA, GINA, GDPR), and global regulations, emphasizing trust, transparency, and participant autonomy as the foundation of ethical research.

This module covers the essentials of pretest genetic counseling in Parkinson’s disease. It explains the purpose of counseling, global gaps in access, and what patients should know before testing, including potential benefits, risks, and family implications. The module also emphasizes collecting family history, setting clear expectations, and using creative tools like videos or written materials to support informed decision making when time or resources are limited.

This module focuses on posttest genetic counseling and how to support patients after genetic testing for Parkinson’s disease. It reviews best practices for discussing negative, positive, and uncertain results, clarifying test limitations, and correcting common misunderstandings. Emphasis is placed on using family history, preparing thoroughly for result disclosure, and tailoring information and support to each patient’s needs.

This two-part module addresses the complexities of genetic counseling in Parkinson’s disease. Part I focuses on explaining multifactorial inheritance, monogenic forms, and challenging genes like GBA1, using tools to support patient understanding. Part II covers family implications, predictive testing, cultural considerations, and managing uncertainty. Together, they emphasize the importance of clear communication, setting realistic expectations, and supporting patients and their families.

This module explains how genetic testing affects not only patients but also their families. It covers discussing results during pretest and posttest counseling, what negative and positive results mean for relatives, and how to share this information. Key topics include who in the family may be at risk, when to consider testing, and challenges with uncertain results. The focus is on clear communication, supporting informed choices, and remembering that testing is a family matter, not just an individual one.