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News

Uptake of genetic testing by relatives of Lynch syndrome probands

The latest issue of Clinical Gastroenterology & Hepatology reviews the uptake of genetic testing by relatives of Lynch syndrome probands

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Screening of persons with newly diagnosed colorectal cancer for Lynch syndrome can yield substantial benefits at acceptable costs, presuming sufficient uptake of genetic testing by first-degree relatives of Lynch syndrome probands.

Dr Ravi Sharaf and colleagues from California, USA performed a systematic review of the literature to determine the frequency of and factors associated with genetic testing of first-degree relatives of Lynch syndrome probands.

The team searched 4 databases, CINAHL, PsycInfo, PUBMED, and SCOPUS for articles published through 2011 reporting uptake of genetic testing by relatives of Lynch syndrome probands.

There were 2 investigators that independently screened articles to determine whether they met inclusion criteria.

The researchers collected data on study population, genetic counseling, and genetic testing.

The researchers identified 1258 potentially relevant articles, of which 533 underwent full-text review, and 8 were included in the final analysis.

52% or less received genetic testing
Clinical Gastroenterology and Hepatology

Of first-degree relatives of Lynch syndrome probands, 52% or less received genetic testing.

For each proband, 3.6 or fewer relatives underwent genetic testing. Demographic factors, psychological factors, and possibly family history were associated with uptake of genetic testing.

Dr Sharaf's team concludes, "Genetic testing appears to be underutilized by first-degree relatives of patients with Lynch syndrome."

"The clinical benefit and economic feasibility of screening persons with colorectal cancer for Lynch syndrome depend on optimizing family-wide uptake of genetic testing."

"Future research and clinical efforts should focus on ways to overcome barriers to genetic testing."

Clin Gastroenterol and Hepatol 2013: 11(9) 1093-1100
05 September 2013

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