Financial impact of next generation sequencing on families at the Center for Rare Childhood Disorders
Diagnosing a child with a rare disorder can be an emotional, time-consuming, and costly process for families. The average patient with a rare disease consults with up to eight physicians, receives two to three misdiagnoses, and spends $137,000 treating symptoms per year. TGen’s Center for Rare Childhood Disorders (C4RCD) eases this process by using Whole Exome Sequencing (WES) to try to pinpoint the genetic causes of rare disorders in children. Through generous donations, TGen is also able to reduce the financial burden by providing this genetic test to families at no out-of-pocket cost. To secure the funding required to provide genetic sequencing to families in the future, it is important to know the impact of WES on families enrolled at the C4RCD.
Unfortunately, there is very limited information about what families do after they receive results. To combat this lack of information, we developed a survey to collect and analyze outcomes specifically relating to the economic benefits of genetic testing in rare disease patients at the C4RCD. The survey will collect data on out-of-pocket medical costs, opportunity costs, and avoided costs as a result of TGen’s WES. We hypothesize that the genetic sequencing performed can keep families from incurring additional medical costs and from seeking additional diagnostic testing. As a result, patients can receive more focused and effective care. The survey results will be used to assist in TGen’s fundraising efforts; to educate patients, families and the public; and to supplement additional research on the economic benefit of genetic testing in rare disease patients.