PT  - JOURNAL ARTICLE
AU  - Aubrey Milunsky
TI  - The “New Genetics” in Clinical Practice: A Brief Primer
AID  - 10.3122/jabfm.2017.03.160316
DP  - 2017 May 01
TA  - The Journal of the American Board of Family
                Medicine
PG  - 377--379
VI  - 30
IP  - 3
4099  - http://www.jabfm.org/content/30/3/377.short
4100  - http://www.jabfm.org/content/30/3/377.full
SO  - J Am Board Fam Med2017 May 01; 30
AB  - Major advances in human genetics have led to the identification of 4451 genes to date with disease-carrying mutations, thereby enabling precise diagnoses of all of these monogenic disorders. Limitations to the use of the “new genetics” do exist, however, including the recognition of genetic heterogeneity, many variants of unknown significance, and incidental diagnoses. This article reviews information to help use these advances to aid accurate diagnoses, identify carriers, and determine prenatal diagnoses, providing opportunities to avoid or prevent serious and fatal genetic disorders.