Bower eyes a time when the cost of whole genome sequencing simply comes down. But that’s an incomplete answer, too, he acknowledges, because the testing is inherently expensive in terms of instruments and the professional time needed to interpret results. From his perspective, it would be “lovely” (his word) to have rapid genome sequencing done on every NICU patient (taking patient consent into account, of course). Such information would also help tremendously from a pharmacogenomic standpoint.
Dr. Jobanputra suggests that any hospital with a NICU, pediatric ICU, and/or cardiac ICU should consider offering rapid genome sequencing, in part because diagnosing a rare disease sooner will be beneficial. And even rare diseases are not rare when taken as a whole, she says. “Testing for multiple diseases allows patients to avoid a diagnostic odyssey.”
The NY Genome Center also offers prenatal genome sequencing, which has become more common among the hospitals it serves, she says. Earlier testing allows patients to prepare earlier for a complicated birth and to switch to a different facility if needed, such as a tertiary care center.
But even as advances in sequencing technologies make it easier to put results into the hands of more providers, there’s still the matter of making sure providers understand the reports.
Dr. Jobanputra notes that nearly all of her lab’s clients are tertiary centers. “So those physicians are mostly highly trained and experienced—it’s New York,” she says. They also have easy access to colleagues with additional expertise when needed. But in the community setting, where ideally this testing would also become the norm, NICU physicians may have less experience with genetic testing and interpretation. While a number of centers are working on new approaches and reporting systems to expand testing beyond tertiary centers, she says, it’s a genuine hurdle. Compounding the difficulties is a shortage of genetic counselors.