Research & Clinical Trials

Clinical Trials

We often hear in the press about clinical trials being conducted in relation to various diseases, medical devices or treatment protocols. What exactly are clinical trials and how can we, as patient advocates, have a participatory role?

Breakthrough scientific research can only become integrated into the standard of care if it is evidence-based, if it has been thoroughly tested using evidence from well-designed studies over time.

One quick, easy and efficient way for would-be advocates to participate in scientific research is to contribute their genetic data to DNA.Land, a non-profit partnership of geneticists from Columbia University and the New York Genome Center. Millions of people have already had their DNA tested through 23andMe, and FamilyTreeDNA for their own knowledge and curiosity.

Genetic Testing

According to what we know now, only 5 to 10% of breast cancers in the United States are linked to an inherited gene mutation. Of those, half are linked to abnormal structural changes in the BRCA1 or the BRCA2 gene, both of whose functions are to repair damaged DNA by making proteins that act as tumor suppressors. When a mutation of this type is passed down, it can pave the way for out-of-control cell division leading to a greatly increased risk of breast and/or ovarian cancer.

Genomic Testing

More and more women with a breast cancer diagnosis are advised to have their biopsied tumor tissue analyzed through genomic tests such as Oncotype DX or Mammaprint. In contrast to genetic testing that analyzes a single gene and its role in transmitting certain traits or conditions from parent to child, genomic testing studies all genes and their interrelationships to figure out their combined effect on living beings.