Aligning Policy to Promote Cascade Genetic Screening for Prevention and Early Diagnosis of Heritable Diseases

摘要: Cascade genetic screening is a methodology for identifying and testing close blood relatives of individuals at increased risk heritable conditions follows sequential process, minimizing costs the number family members who need to be tested. It offers considerable potential cost savings awareness within families. CDC-classified Tier 1 genomic applications hereditary breast ovarian cancer syndrome (HBOC), Lynch Syndrome (LS), familial hypercholesterolemia (FH) are recommended clinical use support cascade screening. Most unaware their such as HBOC, LS, FH. Consistent implementation could significantly increase prevention conditions. Limitations effective include: insufficient assessment knowledge by majority healthcare providers without genetics credentials; shortage specialists, especially in rural areas; low rate reimbursement comprehensive counseling services; an individual focus on guidelines insurance coverage. The family-centric approach improves early diagnosis diseases population health level. better supported augmented through changes policy.