Sunday, December 6, 2015

"Information is Power" - Population Screening (Part 1)



Autosomal dominant mutations, like BRCA1 and BRCA2 are inherited at equal rates from mothers and fathers. However, the cancer risks differ between men and women. Currently genetic testing is only recommended to those who have cancer or those who have a strong family history of cancer. Within the high risk, research, and clinical communities there has been a lot of discussion about “population screening” in regards to cancer genetics. Dr. Mary-Claire King (credited with the discovery of BRCA1) has publicly advocated for population screening, recommending all women be offered genetic testing at age 30, regardless of family history.

Population screening is not a new concept, in fact it is often recommended for early detection of cancer. The USPSTF (U.S. Preventive Services Task Force) recommends women get a mammogram every 1-2 years, beginning at age 50. The American Cancer Society recommends mammograms annually beginning at age 45.

Dr. King and Ephrat Levy-Lahad, MD (Director of the Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel) led a study in 2014 to determine how the breast and ovarian cancer risk among BRCA1/BRCA2 carriers in the general population compared with that among carriers with a history of breast or ovarian cancer. 

The authors write, "In this study, 51% (85 of 167) families harboring BRCA1 or BRCA2 mutations had little or no history of relevant cancer. These families were small and included few females with mutations who had reached the ages of highest cancer risk. Young women in these families would not have been tested in the absence of a general screening program."

In 2014, Dr. Mary-Claire King challenged Huntsville/Madison County (Alabama) to be the first community to offer free genetic testing to 30-year-old women, regardless of family history. Kailos Genetics, in partnership with HudsonAlpha Institute for Biotechnology, accepted this challenge through a genetic testing program, “Information is Power”. The first free test kits were given out at the 2015 Tie the Ribbons event on October 29, 2015. Free/discounted tests will be available through the Kailos website for one full year, until October 29, 2016 for anyone over the age of 19 who lives in Madison, Jackson, Limestone, Marshall and Morgan counties (Alabama).

To date, Kailos has had over 500 participants take advantage of free or discounted genetic testing. We look forward to seeing what the results of this pilot population screening reveal.