Page History

Description

Clinical and genetic data submitted by participants, including minors and affected and unaffected relatives of patients, to support a longitudinal study of a serious disease. A researcher submits an approved data analysis protocol for a research study.

Primary actor/participant

Researcher

Support actor/participant

Patients and first-degree relatives who agree to become study participants, Medical Center-based lab

Pre-conditions

• Research organization and laboratory collect, store, and transfer information in a secure environment.
• Researcher has IRB approval to contact eligible patients and—through the patient—interested family members.
• Researcher has IRB approval to conduct community outreach.
• The researcher stores and manages the data [within a study-related database?]
• After initial consent patients reconsent/assent annually. Minors reconsent upon reaching the legal age of consent.

Post-conditions

• The researcher collects and analyzes the data for a specific research study.
• Patients have the option of making their data, biospecimens, and/or contact information available for future research.

Alternatives

• Genetic condition that has a cure or introduces risks to other people (e.g., cystic fibrosis).
• Genetic risk factors and biomarkers with less certainty than Huntington’s disease – e.g. Heart Disease factors.
• Collection of consent at the end of the study for recontact by the School of Medicine and other interested parties (e.g., pharmaceutical companies that have a new treatment).

Considerations

• Risks are to autonomy (as to when you find out) and disclosure about the participant’s disease status (does the participant want to know they are at risk)?

Data Elements Considered

A combination of data collected manually and entered into an electronic database/repository (i.e., clinical research data: demographics, family history, clinical information); and lab data from the biological specimens (i.e., blood, saliva).

Genetic data about a specific disease.

Purpose of the Data Collection

Improved disease understanding and treatment options; treatment-related data

Purpose of Data Use

Analysis under a specific research protocol

Terms of Transfer to the Data Holders

Consent to the researchers and care to the treatment facility

Terms of Transfer to Researchers

IRB approval and consent