Dawn Laney, MS, CGC, CCRC, Genetic Counselor and Director of Emory Genetic Clinical Trials Center, discusses the importance of knowing how to talk to parents about a newborn screening result.
As Ms. Laney notes, when providing results of a newborn screening test, “the call from the healthcare provider to the family will be what they remember for the rest of their lives”, so it is important that clinicians have as much information about the disease as possible before talking to the parents.
Ms. Laney advises clinicians to talk with genetic counselors, medical geneticists, patient advocacy groups, and/or use reputable websites to obtain information such as GeneReviews.
Newborn screening varies from state to state but for the most part, they test for diseases in the Recommended Uniform Screening Panel (RUSP), a list of disorders that the Secretary of the Department of Health and Human Services (HHS) currently recommends all 50 states include in their newborn screening.
The current core list of conditions in the RUSP are:
- Propionic acidemia
- Methylmalonic acidemia
- Isovaleric acidemia
- 3-Methylcrotonyl-CoA carboxylase deficiency
- 3-Hydroxy-3-methyglutaric aciduria
- Holocarboxylase synthase deficiency
- ß-Ketothiolase deficiency
- Glutaric acidemia type I
- Carnitine uptake defect/carnitine transport defect
- Medium-chain acyl-CoA dehydrogenase deficiency
- Very long-chain acyl-CoA dehydrogenase deficiency
- Long-chain L-3 hydroxyacyl-CoA dehydrogenase def.
- Trifunctional protein deficiency
- Argininosuccinic aciduria
- Citrullinemia, type I
- Maple syrup urine disease
- Homocystinuria
- Classic phenylketonuria
- Tyrosinemia, type I
- Primary congenital hypothyroidism
- Congenital adrenal hyperplasia
- S,S disease (Sickle cell anemia)
- S, βeta-thalassemia
- S,C disease
- Biotinidase deficiency
- Critical congenital heart disease
- Cystic fibrosis
- Classic galactosemia
- Pompe disease
- Hearing loss
- Severe combined Immunodeficiencies
- Mucopolysaccharidosis (MPS) Type 1
- X-linked Adrenoleukodystrophy
- Spinal Muscular Atrophy
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