Matthew Bainbridge, MSc PhD, Principal Investigator, Rady Children’s Institute for Genomic Medicine (Meeting August 12, 2017)

Meeting Notes

1. No diagnosis. What now? -  When tests come back negative, explore more testing, enroll in research, re-analyze data periodically as new knowledge is found and sometimes re-test is worth doing every 3-5 years.
   
2. Research genetic testing – Apply to programs like the Undiagnosed Disease Network (UDN) or Centers for Mendelian Genomics (CMGs at Baylor-Hopkins, Broad Institute, University of Washington and Yale University). Use Google Scholar to find and connect with a researcher working in your disease area. 
3. Pros and cons of research vs clinical – Research is low cost or free, more novel findings and may have thorough work up (UND). But very slow process that can take years. Keep in mind that research labs are not regulated like clinical labs are.
4. Have a diagnosis? Now what? – Always ask if there now needs to be a change in care management? What clinical trials are available for the disease? Seek and reach out to a researcher in this field. Find a support group and connect with other patients/parents.
5. Desperate but cautious – While exhausting everything possible to help your child, be careful. Do not waste money on treatments that are not available in the USA, not supported by science or your doctor thinks are not credible. Be wary of health fraud scams.
6. The right test – There are many genetic tests available now. Have you had a genetics consult to go through results? Do you need more testing and will testing be approved or covered?
7. Communications – Don’t give up on reaching out to doctors for testing or referrals to other programs. Talk to your genetic counselor. Don’t be shy to contact scientists working on your disease area. “Scientists are like bears they are more scared of you than you are of them.”