Early diagnosis of diseases is crucial for effective treatment, especially for rare genetic disorders like infantile Krabbe disease. Newborn screening programs identify indicators of disease through blood tests, while newborn sequencing programs analyze a baby’s DNA for potential genetic health risks. Combining screening with sequencing can lead to earlier diagnosis and treatment, but also poses challenges such as emotional and ethical choices for parents. The involvement of genetic counselors is essential to educate parents and healthcare providers about the benefits and limitations of screening and sequencing. However, there is a need to increase resources and support for genetic counselors to fully leverage the potential of newborn sequencing.
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Newborn Screening + Genome Sequencing: The Formula for Faster Rare Disease Diagnosis?
