ON ADVANCES IN THE DIAGNOSIS OF SINGLE GENE DISORDERS Missed opportunities : unidenti fi ed genetic risk factors in prenatal care

Objective Prenatal and preconception care guidelines recommend obtaining family history to screen for reproductive genetic risk. The effectiveness of this screening and subsequent referral for genetic counseling is not well established. This study describes how often pregnant women with reproductive genetic risks were not referred for prenatal genetic counseling and the indications frequently missed. Method We retrospectively reviewed genetic consultation medical records for first-trimester screen pretest counseling. These women had no documented indications for genetic counseling. We used the American College of Medical Genetics and Genomics referral guidelines for genetic counseling to identify missed indications within the parents’ personal and family histories. Patients with advanced maternal age were excluded. Results We reviewed 416 consultation notes. The counselor elicited a genetic risk for which a referral had not been made in 27% of the pregnant women. Of these, 70% were genetic risks in the family history, 23% in the couple’s history, and 7% in the prenatal history. The most common missed indications were personal or family history of birth defects (38%), intellectual disability or autism (19%), and a prior positive genetic carrier screening test (14%). Conclusion Genetic risk factors are not consistently identified as a referral indication for reproductive genetic counseling. © 2017 John Wiley & Sons, Ltd. Funding sources: None Conflicts of interest: None declared INTRODUCTION Advances in prenatal genetic screening and diagnostic testing methods have led to a new era with multiple options for assessing women’s and their reproductive partners’ genetic risk both before and during pregnancy. Whereas routine genetic testing was once limited to whole chromosomal aneuploidies and a few Mendelian conditions, newer modalities such as chromosomal microarray analysis and expanded parental carrier screening tests now provide the capability to assess for a much broader array of genetic and genomic disorders. With these expanded options for testing and screening comes a burden on healthcare providers to keep pace with advances and the ever-growing list of indications for offering genetic testing. When prenatal screening and testing were limited to a small number of genetic disorders, genetic risk assessment and selection of appropriate testing to refine risk were adequately achieved in the office of the primary care physician or obstetric care provider. However, knowledge of causes of genetic disease, including discovery of hundreds of genomic disorders caused by pathogenic copy number variants and the description of thousands of Mendelian disorders caused by mutations in single genes, is expanding at an unprecedented pace. This is paired with a rapid rate of technological advances and current breadth of testing capabilities for such conditions, including chromosomal microarray analysis, whole-exome sequencing, and targeted next-generation sequencing gene panels, necessitating collaboration with a specialized provider who can navigate this complex field. Thus, the role of genetic counseling has become progressively more important. Yet, only a few studies conducted mostly before or early in the new era of genomic medicine have examined if primary prenatal care providers are confident and effective in screening pregnant or reproductive age women and their reproductive partners for genetic risk to refer them for genetic counseling. Koscica et al. reported in 2001 that, for patients referred for genetic counseling by providers in a high-risk obstetrics practice due to genetic risk, the genetic counselor elicited additional genetic risk factors not identified by the provider in 38% of patients. In the USA, the results of a survey of Fellows of the American College of Obstetrics and Gynecology from 1999 Prenatal Diagnosis 2018, 38, 75–79 © 2017 John Wiley & Sons, Ltd. DOI: 10.1002/pd.5048