Researchers Identify a Growing List of Genetic Disorders That can be Treated Before or Immediately After Birth

Researchers at Mass General Brigham, Harvard Medical School, and Duke University School of Medicine have identified nearly 300 genetic conditions that can be treated before or immediately after a child is born. This “list of treatable fetal findings” could improve the diagnosis of genetic conditions during pregnancy and expand treatment options for fetuses with these conditions. The results were published in the American Journal of Human Genetics.

“We recognized a critical gap in prenatal care and saw an opportunity to define the genetic conditions that are treatable during this time,” said lead author Nina Gold, MD, director of Prenatal Medical Genetics at Massachusetts General Hospital and a founding member of the Mass General Brigham health system. “These conditions are treatable, which means that with diagnostic information, we can intervene early and improve outcomes.”

The Benefits of Genome Sequencing

Over the past decade, genome sequencing has become an indispensable tool for prenatal diagnostics. Genome sequencing tests, when combined with family history, can help identify genes responsible for ultrasound abnormalities. They can also reveal incidental findings that predispose a fetus or newborn to serious but treatable conditions, such as a heart condition that can be treated with medication or a gastrointestinal disorder that can be treated with fluid and electrolyte therapy.

The research team set out to compile a list of these treatable conditions so that patients would have the option to opt in to receiving this type of information. Through a literature review, the authors identified a total of 296 genetic conditions ranging from disorders with new fetal therapies to those where immediate postnatal treatment can prevent irreversible damage. The authors emphasize that early detection of these conditions could reduce morbidity and mortality and offer families unprecedented opportunities for early intervention. “One of our goals is to expand the options available to families during pregnancy,” said Jennifer Cohen, lead author of the study and medical geneticist at Duke University Hospital. These gene lists are intended to provide the possibility of early intervention, which in some cases can alter the natural course of the disease.

Despite its potential, this initiative faces challenges. The researchers outline ethical considerations and acknowledge that patients may feel overwhelmed by the amount of information available to them. They also emphasize the importance of involving medical geneticists, obstetricians, and ethicists to address these complex issues. “Our goal in creating this targeted list of treatable fetal findings is to improve care. However, we are aware of the challenges that physicians, genetic counselors, and patients face when dealing with new health information during pregnancy or immediately after the birth of a child. That is why it is so important to work together as a care team to empower our patients and provide them with the clearest information possible,” said Gold.