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Docs Urged to Use Genome Tests to Diagnose Kids Early
'Knowing what's going on at the genetic level can make a huge difference,' Stoler said. 'It's about clarity, not just for doctors, but for families navigating an uncertain journey.' Access and Adoption Challenges Remain
Pediatricians are generally willing to refer or order genetic testing but face several barriers, said Julian Martinez-Agosto, MD, PhD, an associate professor of genetics at UCLA Health.
'Perceptions about lack of clinical utility or impact on patient outcomes have been a primary barrier,' said Martinez-Agosto, who was not involved with the AAP report. 'Other barriers include lack of time due to high clinic volumes, unfamiliarity with the testing process, and insecurity about discussing results — especially when they're uncertain or relate to reproductive planning.'
Martinez-Agosto said health systems can improve access by offering primary care clinicians accessible education and tools to support counseling and interpretation.
Still, interpreting genetic results can be complex. Some findings may present unclear significance. Others may uncover unrelated but medically relevant information, such as a predisposition to adult-onset diseases.
'It would be optimal for the pediatrician to have the involvement of a trained genetic professional,' Stoler said.
Indeed, the report states that genetic counseling should be offered both before and after testing, especially when test results carry uncertain significance or broader family implications.
Additional barriers include cost and inconsistent insurance coverage. However, Pastinen noted recent signs of improvement.
'In the last 3 years, there's been a substantial increase in Medicaid coverage for early genomic sequencing in unsolved pediatric disease,' Pastinen said
He also said the new AAP guidance could help push insurance companies still hesitant to cover these tests.
'Every year we see better coverage by insurers,' he said. 'I hope this is another piece in the reimbursement puzzle.'
Demarest had consulted for, received grant funding from, and served on advisory boards of BioMarin, Neurogene, and Marinus, among others. The Precision Medicine Institute at Children's Hospital Colorado has ongoing partnerships with Illumina, although Demarest reported not receiving any direct compensation from this partnership. Stoler, Pastinen, and Martinez-Agosto reported no relevant financial conflicts of interest.
Lara Salahi is a health journalist based in Boston. Lead image: Moment/Getty Images
