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.