Universal Screening for Lynch Syndrome: Can Tumor Sequencing Have a Larger Public Health Impact on Treatment and Prevention of Colorectal Cancer?
Lynch syndrome (LS) is the most common hereditary syndrome associated with increased risk of colorectal cancer (CRC), accounting for about 3% of CRC patients. LS is a dominantly inherited condition with mutations in several mismatch repair (MMR) genes. Persons with LS are also at increased risk for endometrial and other cancers. Lynch syndrome affects 1 Read More >Posted on by
Trends and Factors Affecting Utilization of BRCA Testing in the United States: The Need for Improved Surveillance
This blog post is a summary of two recent CDC papers on the trends in utilization of BRCA testing in the United States, and metropolitan-nonmetropolitan areas differences in testing. Women with pathogenic BRCA mutations have an estimated 45–65% risk of breast cancer and a 17–39% risk of ovarian cancer by age 70, as compared with Read More >Posted on by
Can we use genetic screening of healthy populations to save lives and prevent disease? Join the conversation.
On January 30, 2017, CDC held a special workshop to discuss the role of public health in the implementation of genetic screening programs beyond the newborn period. The workshop brought together panelists from the worlds of medical genetics and public health practice, including cancer, birth defects, and laboratory science. Workshop presenters and a CDC panel discussed Read More >Posted on by
From One Hundred Thousand Genomes in the United Kingdom to Millions of Genomes in the United States: What Lessons Can we Learn?
In recent years, the United Kingdom (UK) has made a major commitment to developing a large scale population cohort study (100,000 genome project), linking high quality genomic sequence data to electronic health record information for the purposes of scientific discovery and clinical care improvement. The plan is for this project to continue well into the Read More >Posted on by
As you celebrate Thanksgiving with your family this November, remember that this special day is also National Family Health History Day. Family health history is important to your health and can help you detect unique disease risks and manage them before becoming sick, or find the right diagnosis and treatments when you have a certain Read More >Posted on by
In September 2016, the Cancer Moonshot Blue Ribbon Panel delivered a report with 10 ambitious recommendations to shape cancer research for the next five years. One recommendation is to “expand use of proven prevention and early detection strategies.” [PDF 199 KB] There is a lot we can do to prevent cancer now— even with no Read More >Posted on by
Does genetic risk information improve healthy behavior? Let’s not throw out the baby with the bath water!
In a recent systematic review with meta-analysis, Hollands et al evaluated the impact of communicating genetic risk information on risk-reducing health behaviors and motivations for behavior change. The authors reviewed 18 studies with 7 behavioral outcomes, including smoking cessation, diet and physical activity. They found no significant effects of communicating DNA based risk estimates on Read More >Posted on by
Recently, George Church, a prominent genomics researcher and leader of the Personal Genome Project asked why so few people are opting to inspect their genome. The cost and accuracy of genome sequencing have certainly improved dramatically. He clearly sees the health benefits of whole genome sequencing. He states “we should avoid being judgmental of people Read More >Posted on by
From Genetic Counseling in Individuals to Cascade Screening in Populations: An Emerging Role for Public Health Practice
There are more than 2500 diseases for which genetic testing is currently available. Most of these diseases are individually rare conditions but collectively affect millions of individuals and families worldwide. Genetic diseases are usually caused by mutations in one or a few genes that may confer a high risk of illness, disability and early death. Read More >Posted on by
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