The Collaboration, Education, and Test Translation (CETT) Program is providing resources to develop genetic tests for rare genetic conditions that may not otherwise come to market. From the website:
Access to quality genetic testing for rare diseases is essential in the diagnosis and management of patients with inherited diseases and their families. Currently the development of tests for rare genetic diseases is not keeping pace with the progress of knowledge of the genetic basis of disease.
At the request of the U.S. Congressional House Appropriations Committee to address the development of diagnostic tests for rare diseases, the Office of Rare Diseases (ORD) established the Collaboration, Education, and Test Translation (CETT) Program for Rare Genetic Diseases, a pilot program to promote new genetic test development and better understanding of each rare disease.
See also the Rare/Orphan disease blog
A group of genetic advocacy organizations have teamed-up to launch a biobank. From their webpage:
Seven genetic advocacy organizations established the Genetic Alliance
BioBank™, a repository for the standardized collection, storage and
distribution of biological samples and clinical data for research
purposes. This novel, advocacy-owned and -managed repository focuses
and accelerates research, providing infrastructure for many advocacy
groups to build a valuable resource. The Genetic Alliance BioBank™ sets
new standards for participant involvement in research, provides
standardized protocols, allows for ethical re-contact and robust
protections in the context of the communities served by these advocacy
organizations….Researchers who wish to receive samples submit an application to the
disease-specific advocacy organization. These organizations release
coded samples to the researcher and hold the key that connects specific
samples to individuals, offering a unique opportunity to enable
follow-up studies while protecting participant confidentiality. The
Genetic Alliance BioBank™ will help accelerate basic and translational
research and serve as an essential platform solution for applying the
tools of genetics, genomics, proteomics and metabolomics. The GA
BioBank™ will also provide an opportunity for cross-disease research
that may shed light on pathways and etiology for both common and rare
Genetic Advocacy Organizations that cofounded the Genetic Alliance Biobank:
Inflammatory Breast Cancer Research Foundation
Joubert Syndrome Foundation
National Psoriasis Foundation
NBIA Disorders Association
Noonan Syndrome Support Group
"Californians for Universal Voluntary Individual Genome Sequencing (CUVIGS) today announced its effort to qualify a state initiative that would fund the genome sequencing of all California residents."
From this page. I don’t know if this is even legitimate. I’ll post more when I learn more, but at the moment CUVIGS gets only one hit (i.e. a googlewhackblatt).