Genetic Alliance, Claritas Genomics team up to help patients and families participate in rare disease research

Jun 24 2015

Today Claritas Genomics and Genetic Alliance announced a partnership to help patients and families find and participate in relevant research opportunities that will advance understanding of individual genetic disorders and development of new therapies. In this partnership, Claritas, in collaboration with patient advocacy organizations, will use the Platform for Engaging Everyone Responsibly (PEER), created by Genetic Alliance and Private Access, to connect the patient’s genetic test and exome results to their clinical information and enable families to share information between the clinical and research environments, all the while keeping the families’ interests at the forefront.

Translational research provides critical information that can illuminate underlying biology and lead to a better understanding of genetic disorders, yet research opportunities are often not easy for patients to find, and it can be difficult to use information gathered longitudinally in the clinical context to continually inform the research enterprise. Moreover, individual patients often do not benefit from research directly, as research is typically performed using de-identified, aggregate data and patients therefore cannot be informed of outcomes. Using the PEER system, patients receiving Claritas clinical testing services can choose what information to share with relevant research initiatives, and receive individualized relevant findings.

"The Claritas mission is to bring answers and resources to children affected with complex genetic disorders, and do so quickly. Now is the time to offer patients and caregivers the opportunity to engage in truly patient-centered genomics research,” said Patrice Milos, PhD, Claritas Genomics president and CEO. “We should ‘free the patient’ using this system, acknowledging the patient's preferences regarding privacy, risk/benefit considerations, their timeline, and willingness to share their data. Together, let’s deliver dynamic and granular consent processes that enable patients to help themselves and others."

“As a parent of two children with a genetic condition, diagnosed after years of diagnostic odyssey and then having to build a research infrastructure for their condition ourselves, I am thrilled that we can offer families the opportunity to easily share their child’s clinical and genetic information. PEER allows parents to set their own data sharing, privacy, and access preferences,” Sharon Terry, president and CEO of Genetic Alliance, stated. “This degree of granular and dynamic engagement is novel and Claritas is unique in its vision to enable the patient to remain at the center.”

The PEER participants determine who can see and/or use their data and they can change those settings over time. The participant can also indicate that they wish to be contacted for further opportunities. Communities customize the PEER portal on their website, engaging guides local to the community.

"We have given our patient community, children affected by Joubert Syndrome and related conditions, a unique opportunity to truly participate in research,” said Matthew Smith, uncle of a child with the condition, and board member for the Joubert Syndrome and Related Diseases Foundation. "Those with rare conditions don’t always have a strong voice in medical research advocacy, but the desire is there. We have seen a 3-fold increase in engagement of our community since the launch of our PEER portal in 2014.”

Claritas and Genetic Alliance are excited to partner on this important patient-centric project, giving researchers access to more comprehensive data to accelerate translational science and ultimately alleviate suffering through therapies and interventions.