Conditions Screened

For a gene to be included in the Sunshine Genetics Tier 2 gene-condition list, it must meet the following criteria:

• The gene is known to cause a condition:
  • Utilize clinical validity frameworks (e.g., ClinGen gene-disease validity classifications: “Definitive” or “Strong”).
  • For genes that have not yet been validated through clinical validity frameworks, expert opinions are discussed and approved by the Sunshine Genetics Gene-Condition Working Group.
• The condition associated with the gene has a serious impact on a child’s health and/or is life limiting
• The condition associated with the gene affects children under 18 years of age.
• Early or pre-symptomatic intervention for the condition may lead to improved outcomes in children, compared to intervention initiated later during the disease course. The intervention may cure, delay, or modify the course of the condition or prevent symptomatic onset. Qualifying interventions can include medical treatments (evidence-based as well as on-going clinical trials), supportive or behavioral interventions, contraindication awareness (e.g., contraindicated drugs), dietary management, surgery, anticipatory care and surveillance for condition-related sequelae enabling timely interventions, or genetic therapies.
• Gene-condition associations included on the list should demonstrate sufficient evidence for a clinically meaningful and reasonably penetrant phenotype relevant to the intended screening context. Penetrance should be evaluated in the context of the specific condition, phenotype severity, inheritance pattern, age of onset, and variant type, recognizing that penetrance and expressivity may vary across disorders and allelic variants associated with the same gene. Gene-condition pairs associated primarily with low penetrance or uncertain clinical significance may be excluded.