In spite of the promise of genomics and related technologies for a new era of precision healthcare and disease prevention, only a handful of genomic tests and applications have been recommended for use in clinical practice. Nevertheless, implementation of even the few recommended genomic tests is lagging. For example, implementing the 2005 USPSTF recommendation on genetic counseling of high risk women for BRCA testing is still not optimal, in spite of years of efforts by health care providers and genetic counselors. A recent study from a national sample of 14.4 million commercially insured patients shows underutilization of BRCA testing to guide breast cancer prevention among African-American and Hispanic women compared to whites. In addition a recent survey of primary care providers showed that only 19% consistently recognize the family history patterns identified by the USPSTF as appropriate indications for BRCA referral for evaluation. Likewise, implementing the 2009 EGAPP recommendation on testing all new cases of colorectal cancer for Lynch syndrome to reduce morbidity and mortality in relatives is just getting started. Substantial challenges in the healthcare system currently exist in the identification of Lynch syndrome in patients and their affected relatives. A Lynch Syndrome Screening Network was recently launched to accelerate research and implementation of Lynch Syndrome testing.
A blog devoted to discussing best practices and questions about the role of genomics in disease prevention, health promotion and healthcare.
Select Month: June 2012
June 21st, 2012 11:41 am ET - Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention
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