GenomeConnect and the NIGMS Repository: Linking Clinical Data to Biobank Samples to Improve Rare Disease Research

Patients who participate in both a public research biobank – like the NIGMS Human Genetic Cell Repository – and a clinical data registry – such as GenomeConnect – directly increase the amount of data available to scientists, which is critical for advancing research and ultimately achieving better medical care for individuals with rare genetic diseases and chromosomal abnormalities.

Blood or tissue samples donated to the NIGMS Repository can be linked to de-identified clinical data stored in the GenomeConnect patient registry. This “patient portal,” as it is also known, is a secure place for patients to voluntarily share and store their detailed information.

Biobank samples linked to curated clinical data are highly valuable to scientists for a variety of purposes, including: discovery of new disease genes, exploration of gene function and expression, and the development of new ways to diagnose, treat and possibly prevent genetic diseases.

Participating in both the GenomeConnect registry and the NIGMS Repository has the following advantages:

• Clinical data is collected once, minimizing the burden on sample donors
• Cell lines and DNA made from donated blood or tissue samples undergo rigorous quality control measures to create high-quality materials to be used by scientists
• Scientists using samples with registry data can access current and past information about sample donors, resulting in an enhanced understanding of the disease course over time
• Biobank samples with linked registry data are made accessible to scientists through a unique identifier, protecting donor privacy.

Patients with any rare genetic disease or chromosomal abnormality and their immediate family members may be eligible to donate a blood or tissue sample to the NIGMS Repository at the Coriell Institute. To participate:

• Request a blood and/or skin biopsy collection kit by contacting NIGMS@coriell.org
• Complete an informed consent form and a submission form
• Provide copies of your genetic test results and other relevant medical records either directly to Coriell or through the GenomeConnect registry by granting the NIGMS Repository permission to access your securely stored genetic and health information
• Have blood drawn and/or a tissue biopsy performed by your physician
• Ship the sample(s) and completed forms to Coriell using a pre-paid FedEx air bill

The GenomeConnect registry, an online portal developed by Geisinger Health System, is open to anyone that has had genetic testing, regardless of diagnosis or genetic test results. This online community allows patients to connect with other individuals with the same genetic changes and to connect patients to research opportunities.

To register, visit genomeconnect.org. For more information, visit www.clinicalgenome.org/genomeconnect/for-participants.