Aligning Policy to Promote Cascade Genetic Screening for Prevention and Early Diagnosis of Heritable Diseases
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Cascade genetic screening is a methodology for identifying and testing close blood relatives of individuals at increased risk for heritable conditions and follows a sequential process, minimizing testing costs and the number of family members who need to be tested. It offers considerable potential for cost savings and increased awareness of heritable conditions within families. CDC-classified Tier 1 genomic applications for hereditary breast and ovarian cancer syndrome (HBOC), Lynch Syndrome (LS), and familial hypercholesterolemia (FH) are recommended for clinical use and support the use of cascade genetic screening. Most individuals are unaware of their increased risk for heritable conditions such as HBOC, LS, and FH. Consistent implementation of cascade genetic screening could significantly increase awareness and prevention of heritable conditions. Limitations to effective implementation of cascade genetic screening include: insufficient genetic risk assessment and knowledge by a majority of healthcare providers without genetics credentials; a shortage of genetic specialists, especially in rural areas; a low rate of reimbursement for comprehensive genetic counseling services; and an individual focus on prevention by clinical guidelines and insurance coverage. The family-centric approach of cascade genetic screening improves prevention and early diagnosis of heritable diseases on a population health level. Cascade genetic screening could be better supported and augmented through changes in health policy.
KeywordsCascade genetic screening Familial hypercholesterolemia Genetic counseling Healthcare reform Hereditary breast and ovarian cancer syndrome Hereditary conditions Heritable disease Lynch syndrome Policy change
The Centers for Disease Control and Prevention (CDC) Cooperative Agreement, Division of Cancer Prevention and Control, provided funding for project activities through the Enhancing Breast Cancer Genomic Practices through Education, Surveillance, and Policy; CDC-RFA-DP11-1114; FOA DP11-114 award #5U58DP003790. The findings and conclusions in this report are those of the authors and do not necessarily represent the views of the CDC.
Conflict of Interest
The authors declare no conflicts of interest.
Animal or Human Studies
No animal or human studies were carried out by the authors for this article. All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients being included in the study.
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