The Joint Public Health Impact of Family History of Diabetes and Cardiovascular Disease among Adults in the United States: A Population-Based Study
D Rasooly et al, Public Health Genomics, October 6, 2022
Participants with joint family history exhibit 6.5 greater odds for having both diseases and are diagnosed with diabetes 6.6 years earlier than participants without family history. Healthy participants without prevalent CVD or diabetes but with joint family history exhibit a greater prevalence of diabetes risk factors compared to no family history counterparts. Joint family history is associated with an increase in all-cause mortality. Over 44% of the US adult population has a family history of CVD and/or diabetes. This wide presence of high-risk family history suggests that clinical and public health efforts should collect and act on joint family history of CVD and diabetes to improve population efforts in the prevention and early detection of these common chronic diseases.
Two Factors to ID Men at Highest Risk for Prostate Cancer Death
R Nelson, Medscape, September 2022
A family history of prostate cancer has long been one of the few universally accepted risk factors for the disease. New findings now provide evidence that risk stratification based on family history and inherited polygenic risk can identify men at highest risk of dying from the disease before age 75. Men in the upper quartile of polygenic risk score or who had a family history of prostate or breast cancer accounted for close to 100% of prostate cancer deaths by age 75. This strategy can also identify men at low risk for prostate cancer, potentially sparing them from intensive prostate cancer screening.
Genetic Testing Challenges in Oncology: Lynch Syndrome Diagnosis Despite Negative Test Results
T Ray, Precision Oncology News, August 29, 2022
Current screening guidelines recommend that patients between ages 45 and 75 and at average risk for colon cancer, should have colonoscopies every 10 years. However, patients with a personal or family history of colorectal cancer or colon polyps, or patients with Lynch or another inherited cancer syndrome associated with heightened colon cancer risk, may be eligible for more frequent screenings.
Incorporating family history of disease improves polygenic risk scores in diverse populations
MLA Hujeol et al, Cell Genomics, July 13, 2022
Polygenic risk scores (PRSs) derived from genotype data and family history (FH) of disease provide valuable information for predicting disease risk, but PRSs perform poorly when applied to diverse populations. Here, we explore methods for combining both types of information (PRS-FH) in UK Biobank data. We evaluated PRS, FH, and PRS-FH using liability-scale R2, primarily focusing on 3 well-powered diseases (type 2 diabetes, hypertension, and depression). PRS attained average prediction R2s of 5.8%, 4.0%, and 0.53% in non-British Europeans, South Asians, and Africans, confirming poor cross-population transferability. In contrast, PRS-FH attained average prediction R2s of 13%, 12%, and 10%, respectively, representing a large improvement in Europeans and an extremely large improvement in Africans. In conclusion, including family history improves the accuracy of polygenic risk scores, particularly in diverse populations.