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

Verfasser / Beitragende:
[Rani George, Karen Kovak, Summer Cox]
Ort, Verlag, Jahr:
2015
Enthalten in:
Journal of Genetic Counseling, 24/3(2015-06-01), 388-399
Format:
Artikel (online)
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024 7 0 |a 10.1007/s10897-014-9805-5  |2 doi 
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245 0 0 |a Aligning Policy to Promote Cascade Genetic Screening for Prevention and Early Diagnosis of Heritable Diseases  |h [Elektronische Daten]  |c [Rani George, Karen Kovak, Summer Cox] 
520 3 |a 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. 
540 |a National Society of Genetic Counselors, Inc., 2015 
690 7 |a Cascade genetic screening  |2 nationallicence 
690 7 |a Familial hypercholesterolemia  |2 nationallicence 
690 7 |a Genetic counseling  |2 nationallicence 
690 7 |a Healthcare reform  |2 nationallicence 
690 7 |a Hereditary breast and ovarian cancer syndrome  |2 nationallicence 
690 7 |a Hereditary conditions  |2 nationallicence 
690 7 |a Heritable disease  |2 nationallicence 
690 7 |a Lynch syndrome  |2 nationallicence 
690 7 |a Policy change  |2 nationallicence 
700 1 |a George  |D Rani  |u Oregon Genetics Program, Oregon Health Authority, 800 NE Oregon St, Ste. 370, 97232, Portland, OR, USA  |4 aut 
700 1 |a Kovak  |D Karen  |u Oregon Genetics Program, Oregon Health Authority, 800 NE Oregon St, Ste. 370, 97232, Portland, OR, USA  |4 aut 
700 1 |a Cox  |D Summer  |u Oregon Genetics Program, Oregon Health Authority, 800 NE Oregon St, Ste. 370, 97232, Portland, OR, USA  |4 aut 
773 0 |t Journal of Genetic Counseling  |d Springer US; http://www.springer-ny.com  |g 24/3(2015-06-01), 388-399  |x 1059-7700  |q 24:3<388  |1 2015  |2 24  |o 10897 
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950 |B NATIONALLICENCE  |P 700  |E 1-  |a George  |D Rani  |u Oregon Genetics Program, Oregon Health Authority, 800 NE Oregon St, Ste. 370, 97232, Portland, OR, USA  |4 aut 
950 |B NATIONALLICENCE  |P 700  |E 1-  |a Kovak  |D Karen  |u Oregon Genetics Program, Oregon Health Authority, 800 NE Oregon St, Ste. 370, 97232, Portland, OR, USA  |4 aut 
950 |B NATIONALLICENCE  |P 700  |E 1-  |a Cox  |D Summer  |u Oregon Genetics Program, Oregon Health Authority, 800 NE Oregon St, Ste. 370, 97232, Portland, OR, USA  |4 aut 
950 |B NATIONALLICENCE  |P 773  |E 0-  |t Journal of Genetic Counseling  |d Springer US; http://www.springer-ny.com  |g 24/3(2015-06-01), 388-399  |x 1059-7700  |q 24:3<388  |1 2015  |2 24  |o 10897