guidelines and statements have assisted patients seeking prenatal screening information and health-care providers responsible for providing accurate and up-to-date information to their patients. [1][2][3] Until recently, noninvasive prenatal screening for aneuploidy relied on measurements of maternal serum analytes and/or ultrasonography. These have a false-positive rate of approximately 5% and detection rates of 50-95%, depending on the specific screening strategy used. Advances in genomic technologies led to noninvasive prenatal screening that relies on the presence of cell-free DNA derived from the placenta but circulating in maternal blood, which is referred to here as noninvasive prenatal screening (NIPS). Massive parallel sequencing of maternal and placental (also called fetal when speaking of the fraction of this DNA in maternal blood) fragments of DNA occurs simultaneously. Sequencing with quantification can be random, targeted, and followed by quantification or exploitation of single-nucleotide polymorphisms. [4][5][6][7][8] Alternatively, sequencing can take place by measuring the release of hydrogen ions as nucleotides are added to a DNA template (i.e., semiconductor sequencing). 9 Microarray technology can also be used to quantify DNA. 10 Bioinformatics that enable these methodologies is complex and proprietary. Since the introduction of NIPS in 2011, health-care providers and patients have experienced marketing pressures, rapidly evolving professional practice guidelines, and confusion regarding the appropriate role of Noninvasive prenatal screening using cell-free DNA (NIPS) has been rapidly integrated into prenatal care since the initial American College of Medical Genetics and Genomics (ACMG) statement in 2013. New evidence strongly suggests that NIPS can replace conventional screening for Patau, Edwards, and Down syndromes across the maternal age spectrum, for a continuum of gestational age beginning at 9-10 weeks, and for patients who are not significantly obese. This statement sets forth a new framework for NIPS that is supported by information from validation and clinical utility studies. Pretest counseling for NIPS remains crucial; however, it needs to go beyond discussions of Patau, Edwards, and Down syndromes. The use of NIPS to include sex chromosome aneuploidy screening and screening for selected copy-number variants (CNVs) is becoming commonplace because there are no other screening options to identify these conditions. Providers should have a more thorough understanding of patient preferences and be able to educate about the current drawbacks of NIPS across the prenatal screening spectrum. Laboratories are encouraged to meet the needs of providers and their patients by delivering meaningful screening reports and to engage in education. With health-care-provider guidance, the patient should be able to make an educated decision about the current use of NIPS and the ramifications of a positive, negative, or no-call result. Genet Med advance online publication 28 July 2016Key Words: cell-f...

Standard educational approaches may be equally effective as expanded counseling approaches in enhancing knowledge. Since knowledge is a key aspect of medical decision-making, standard education may be adequate in situations where genetic testing must be streamlined. On the other hand, it has been argued that optimal decision-making requires not only knowledge, but also a reasoned evaluation of the positive and negative consequences of alternate decisions. Although the counseling approach is more likely to achieve this goal, it may not diminish interest in testing, even among women at low to moderate risk. Future research should focus on the merits of these alternate approaches for subgroups of individuals with different backgrounds who are being counseled in the variety of settings where BRCA1 testing is likely to be offered.

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Will the United States have sufficient numbers of qualified health professionals to provide for the future genetic health care and service needs of the population?This is a difficult question to answer. Continued scientific discoveries and new clinical applications will fuel a growing interest and demand for genetic services. At the same time, the very definition of genetic services is evolving. Clinical genetics services are highly specialized and currently constitute a focused area of overall medical care and public health programs. Yet, genetics-related discoveries are forecast to be one of the most significant factors affecting health care over the next decades.This summary presents key findings of a survey of medical geneticists that was one component of a 3-year national research project, Assessing Genetic Services and the Health Workforce. The goals of the overall project were to: (1) describe current models of providing clinical genetics services; (2) describe the roles of health professionals delivering services; (3) identify measures to monitor changes in demand for services; and (4) establish a framework and baseline description for ongoing and longitudinal studies of genetic services.A written survey of all American Board of Medical Genetics (ABMG) certified medical geneticists was conducted in February 2003; it included 67 questions organized into six sections. A 55% response rate was obtained. No response rate difference (bias) was found using comparisons by geographic location (US Census regions and divisions), and year and type of initial ABMG certification. When using comparisons by respondents' degree type, response rates varied from 51% to 63%, with a slight but statistically significant higher response rate for the PhD-only degree subgroup. We concluded from this analysis that the observed response rates showed variability but little evidence of bias. Thus, we present findings weighted for the entire population (1377) This commentary begins with a workforce summary that presents findings for the entire medical genetics workforce. Only limited subgroup analysis is presented (e.g., the geographic distribution of MD clinical geneticists, activities of clinical laboratory geneticists). This workforce summary approach allows one to describe the overall characteristics, professional practices, and aggregate contributions of the professional group.