Interview with Catherine Brownstein of Boston Children’s Hospital

Dr. Brownstein is an Instructor in Pediatrics at Harvard Medical School and a Research Associate in the Division of Genetics and Genomics at Boston Children’s Hospital. As the Scientific Director for the Manton Center for Orphan Disease Research Gene Discovery Core, Dr. Brownstein has been instrumental in the elucidation of several new disease genes for conditions such as intellectual disability, nemaline myopathy, very early onset psychosis, SIDS, and hypophosphatemic rickets. Her current work focuses on advancing the fields of next generation sequencing and analysis. Read her full bio.

Interview with Catherine Brownstein of Boston Children’s Hospital

Q: NGS is enhancing patient care through improved diagnostic sensitivity and more precise therapeutic targeting. Prominent examples include cystic fibrosis and cancer. What other clinical areas NGS will most likely to change the standard-of-care in the near future?

A: Rapid turnaround newborn sequencing is going to be the next place NGS revolutionizes. It would be wonderful to prevent the diagnostic odyssey that so many patients go through, and to have answers of “whats wrong with my child” within 72 hours of birth.

Q: In order to maximize the potential of NGS use in the clinic, what new genomics strategies need to be adapted?

A: Not really a genomic strategy, but right now a huge bottleneck is the consenting process. We have to modernize and streamline. There aren’t enough genetic counselors to go around. Remote consenting and the use of AI has to be adopted.

Q: What areas of sequencing technologies need to be improved before new applications can be introduced to clinical use?

A: RNAseq analysis platforms need to become more user friendly. Long range sequencing platforms need to come down in price so they can be adopted by research and the clinic alike.

Q: What are the current challenges in the setup of large-scale NGS analysis workflows?

A: Integration of different data types into one cohesive platform. There are a few companies that do it well, but it is still difficult to integrate the array with the exome with the phenotyping data and have everything meaningful factor into the analysis.

Q: What are the obstacles to the widespread adoption of NGS in routine diagnostic testing?

A: Cost. Reimbursement. Hands down that’s the biggest problem. I have confidence that clinicians will adopt NGS once reimbursement is settled.