Endstage renal disease (ESRD) or kidney failure affects over 500,000 persons in the United States and disproportionately affects racial and ethnic minority populations. Compared to whites, African Americans are 2-4 times more likely to develop ESRD, and represent 32% of the ESRD population, while only representing 13% of the US population. Two independent variants of the Apolipoprotein L1 (APOL1) gene, G1 and G2, have been associated with a 7 to 10-fold greater risk of developing non-diabetic ESRD in African Americans.

Prenatal genetic services have expanded at an extraordinary pace over the past 4 years with the development of fetal genome sequencing using cell-free placental DNA in maternal serum. Some commentators predict that this new technology, which allows for noninvasive determination of an increasingly wide range of maternal-fetal health conditions, will improve prenatal care, especially in lower-resource areas.

As genomic sequence data are being produced faster and at lower cost, the most significant challenge in clinical genetic testing today is variant classification. Currently, there are marked differences in variant classification among clinical laboratories, with clinically significant discrepancies in 29% of variants interpreted. Variants that were previously categorized as pathogenic are now known to be benign with the increasing availability of more ethnically diverse reference data, and this is issue is more common for individuals of non-European ancestry.