caa a22 4500 605544530 CHVBK 20210128100931.0 cr unu---uuuuu 210128e20150601xx s 000 0 eng 10.1007/s10897-014-9805-5 doi (NATIONALLICENCE)springer-10.1007/s10897-014-9805-5 Aligning Policy to Promote Cascade Genetic Screening for Prevention and Early Diagnosis of Heritable Diseases [Elektronische Daten] [Rani George, Karen Kovak, Summer Cox] 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. National Society of Genetic Counselors, Inc., 2015 Cascade genetic screening nationallicence Familial hypercholesterolemia nationallicence Genetic counseling nationallicence Healthcare reform nationallicence Hereditary breast and ovarian cancer syndrome nationallicence Hereditary conditions nationallicence Heritable disease nationallicence Lynch syndrome nationallicence Policy change nationallicence George Rani Oregon Genetics Program, Oregon Health Authority, 800 NE Oregon St, Ste. 370, 97232, Portland, OR, USA aut Kovak Karen Oregon Genetics Program, Oregon Health Authority, 800 NE Oregon St, Ste. 370, 97232, Portland, OR, USA aut Cox Summer Oregon Genetics Program, Oregon Health Authority, 800 NE Oregon St, Ste. 370, 97232, Portland, OR, USA aut Journal of Genetic Counseling Springer US; http://www.springer-ny.com 24/3(2015-06-01), 388-399 1059-7700 24:3<388 2015 24 10897 https://doi.org/10.1007/s10897-014-9805-5 text/html Onlinezugriff via DOI BK010053 XK010053 XK010000 Metadata rights reserved Springer special CC-BY-NC licence nationallicence 1 research-article jats NATIONALLICENCE NATIONALLICENCE NL-springer NATIONALLICENCE 856 40 https://doi.org/10.1007/s10897-014-9805-5 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- George Rani Oregon Genetics Program, Oregon Health Authority, 800 NE Oregon St, Ste. 370, 97232, Portland, OR, USA aut NATIONALLICENCE 700 1- Kovak Karen Oregon Genetics Program, Oregon Health Authority, 800 NE Oregon St, Ste. 370, 97232, Portland, OR, USA aut NATIONALLICENCE 700 1- Cox Summer Oregon Genetics Program, Oregon Health Authority, 800 NE Oregon St, Ste. 370, 97232, Portland, OR, USA aut NATIONALLICENCE 773 0- Journal of Genetic Counseling Springer US; http://www.springer-ny.com 24/3(2015-06-01), 388-399 1059-7700 24:3<388 2015 24 10897