Jennifer M. Hoskovec

NSGC practice guideline: Prenatal screening and diagnostic testing options for chromosome aneuploidy

The BUN and FASTER studies, two prospective multicenter trials in the United States, validated the accuracy and detection rates of first and second trimester screening previously reported abroad. These studies, coupled with the 2007 release of the American College of Obstetricians and Gynecologists (ACOG) Practice Bulletin that endorsed first trimester screening as an alternative to traditional second trimester multiple marker screening, led to an explosion of screening options available to pregnant women. ACOG also recommended that invasive diagnostic testing for chromosome aneuploidy be made available to all women regardless of maternal age. More recently, another option known as Non-invasive Prenatal Testing (NIPT) became available to screen for chromosome aneuploidy. While screening and testing options may be limited due to a variety of factors, healthcare providers need to be aware of the options in their area in order to provide their patients with accurate and reliable information. If not presented clearly, patients may feel overwhelmed at the number of choices available. The following guideline includes recommendations for healthcare providers regarding which screening or diagnostic test should be offered based on availability, insurance coverage, and timing of a patient’s entry into prenatal care, as well as a triage assessment so that a general process can be adapted to unique situations.

Projecting the Supply and Demand for Certified Genetic Counselors: a Workforce Study

As of May 2017, there were 4242 Certified Genetic Counselors (CGC) (American Board of Genetic Counseling, Inc. 2017) and 41 graduate-level genetic counseling training programs (Accreditation Council for Genetic Counseling 2017) in North America, and the demand for CGCs continues to increase. In the Fall of 2015 the Genetic Counselor Workforce Working Group, comprised of representatives from the American Board of Genetic Counseling (ABGC), the Accreditation Council for Genetic Counseling (ACGC), the Association of Genetic Counseling Program Directors (AGCPD), the American Society of Human Genetics (ASHG), and the National Society of Genetic Counselors (NSGC) commissioned a formal workforce study to project supply of and demand for CGCs through 2026. The data indicate a shortage of genetic counselors engaged in direct patient care. Assuming two scenarios for demand, supply is expected to reach equilibrium between 2024 and 2030. However, given the rate of growth in genetic counseling training programs in the six months since the study was completed, it is reasonable to expect that the number of new programs may be higher than anticipated by 2026. If true, and assuming that growth in programs is matched by equivalent growth in clinical training slots, the supply of CGCs in direct patient care would meet demand earlier than these models predict.

Maternal Serum Screening: Results Disclosure, Anxiety, and Risk Perception

Although increased maternal anxiety following the disclosure of positive second-trimester maternal serum screen (MSS) results has been well documented, how this anxiety correlates with the method of results disclosure has not been well defined. This pilot study aimed to determine how abnormal second-trimester MSS results are disclosed, the level of anxiety experienced by women as a result of this disclosure, and the accuracy of their risk perception. Women referred for prenatal genetic counseling were asked to complete a questionnaire including demographics, standardized Spielberger State-Trait Anxiety Inventory, results disclosure information, and perceived risk. Of the 561 questionnaires distributed, 388 (69.2%) women chose to participate. Of the 136 participants referred for an abnormal MSS, 125 (91.9%) were aware of this indication and elected to complete the results disclosure portion of the questionnaire. The average anxiety level was not significantly different based on the method of results disclosure or who reported the results. We did not identify a definite cause for the anxiety experienced by women receiving abnormal MSS results; however, this study illustrates the need for further research to identify factors that contribute to the elevated anxiety experienced by these women.

A foot path to diagnosis: prenatal sonographic identification of dorsal foot edema suggests Turner syndrome.

tified on cranial ultrasound. There are only a few studies published on neurodevelopment of neonates with SEPCs, and the prognosis is still uncertain. Among 74 patients in the study population, SEPCs were diagnosed before the seventh postnatal day in 61 infants and were considered antenatal in origin, whereas SEPCs were newly identified after the 21st postnatal day in 5 infants and were considered postnatal in origin, as they were not seen on previous ultrasounds. Subependymal pseudocysts were distinguished as germinolytic cysts or frontal horn cysts based on location. Various comorbidities, such as congenital cytomegalovirus (CMV) infection, microcephaly, cardiac disease,metabolic disease, and genetic disease, were documented. Among 65 infants with normal neurological examinations at birth, 1 died postnatally, 8 were diagnosed with congenital CMV, and 56 were healthy. The mean developmental quotients at 6, 18, and 46 months were 98.2, 94.6, and 99.6, respectively. When the premature infants with SEPCswere matched with premature infants without SEPCs, there was no statistically significant difference in themean developmental quotient. The authors conclude that newborns diagnosed with SEPCs with a normal initial neurological examination and without CMV undergo normal neurodevelopment. They emphasize the importance of distinguishing SEPCs from cystic periventricular leukomalacia, which has a worse prognosis.

Clinical experience with sex chromosome aneuploidies detected by noninvasive prenatal testing (NIPT): Accuracy and patient decision‐making

The objectives of the study are to assess the accuracy of noninvasive prenatal testing (NIPT) for sex chromosome aneuploidies (SCAs) and to investigate patient decision‐making in clinical practice.

Genetic Counseling Overview for the Obstetrician-Gynecologist

This article outlines a framework for the process of genetic counseling in the primary obstetric and gynecologic setting. Specifics regarding risk assessment, family history evaluation, genetic testing, and pretest and posttest counseling are discussed. Additionally, the article provides strategies for counseling patients effectively and addresses when a referral for additional genetic counseling by a specialized genetics provider should be considered.

Commentary on “Commercial Genetic Testing and the Future of the Genetic Counseling Profession”

The genetic counselor profession is a rapidly evolving entity with numerous forces affecting growth, diversification, and direction. The genetic counselor workforce has been, and remains, a priority for the National Society of Genetic Counselors (NSGC), and the current strategic plan outlines workforce as one of the three strategic initiatives, BDirect the evolution and adaptation of the genetic counselor workforce.^ In order to tackle this complex issue, identifying and understanding the various forces that may impact the genetic counselor workforce is imperative. This has proven to be challenging given the nature of the genetic testing landscape and available data. As chair of the Workforce Working Group (WFWG), I had the opportunity to work collaboratively with representatives from the major US professional genetic counseling organizations (American Board of Genetic Counseling, Accreditation Council for Genetic Counseling, NSGC, Association for Genetic Counseling Program Directors, and American Society of Human Genetics) to delve deeper into the genetic counselor workforce issue. In 2016, the WFWG commissioned a Washington D.C.-based health economics and consulting firm to conduct a workforce study of clinical genetic counselors (CGCs) in the USA with the goal of projecting supply and demand for CGCs through 2026 (Hoskovec et al. 2018). Through this process it became clear that data derived from the work of the professional genetic counseling organizations provides a framework for the supply of genetic counselors now and in the future. However, predicting the demand for CGCs across the spectrum of work environments genetic counselors are employed in was significantly more difficult. For this reason, publications such as BCommercial Genetic Testing and the Future of the Genetic Counseling Profession^ are important additions to the genetic counselor workforce body of literature. The commentary BCommercial Genetic Testing and the Future of the Genetic Counseling Profession^ by Wolff and Wolff (2018) provides insight into the financial health and business side of four publicly traded genetic testing companies. While the commentary includes only a sampling of genetic testing companies, it provides information not previously reported in the context of potential influence on genetic counselors. Given the increasing percentage of CGCsworking in a commercial laboratory setting, 17.2% of respondents in the 2016 NSGC Professional Status Survey (National Society of Genetic Counselors 2016), an understanding of the business strategies and financial health of companies employing genetic counselors is meaningful. This insight can arm the genetic counseling profession with information needed to further adapt to this particular work environment and perhaps more accurately predict the demand for GCGs within genetic testing companies. Wolff and Wolff (2018) address the need for the genetic testing companies to become, and remain, profitable. While this is expected as a goal for most companies, it is possible that the profitability of commercial genetic testing laboratories and the business decisions required to attain profitability may not be well understood by all who are impacted by it. Wolff and Wolff (2018) suggest that, as these genetic testing companies make decisions to both attain profitability and set themselves apart from competitors, there could be a direct impact on how genetic counselors are utilized. They predict that if genetic counselor activities are funded in certain ways (i.e., investor funding) and profitability is not sufficient, the support for genetic counselors, both those in counseling and noncounseling roles, may decrease. While this risk is certainly something to consider when addressing future CGC demand, it is also important to consider the alternative. Genetic counselors continue to expand their roles across the healthcare spectrum, and there has been work in the genetic counseling * Jennifer Hoskovec Jennifer.e.malone@uth.tmc.edu

Genesurance Counseling: Patient Perspectives

Genetic counselors (GCs) have reported an increase in discussion of insurance-related, or “genesurance,” topics during genetic counseling sessions. Despite increasing frequency, there have been no studies examining patient expectations of GCs in these discussions. This study aimed to explore patient expectations of GCs in these discussions, as well as examine factors that may impact expectations. A 38-item survey was administered prior to patients receiving prenatal or cancer genetic counseling at 11 clinic sites across UTHealth, Baylor College of Medicine, and Sanford Health, with 360 responses analyzed. Key variables were analyzed using descriptive statistics, chi-square analysis, and multivariate logistic regression to assess associations between factors and control for potential confounders. Over 75% of patients expected GCs to discuss genesurance topics during a genetic counseling session. The majority of patients (78%) expected GCs to provide an estimated out-of-pocket cost, know if a test is a covered benefit (77%), and provide referral information for further questions (76%). Two additional expectations, considered to be unrealistic in most clinical settings, included expecting GCs to know the patient’s specific insurance plan and coverage information (57%) and provide an exact out-of-pocket cost (41%). Ethnicity was the only significant predictor of response for these two expectations, as African Americans and Hispanics were more likely than Caucasians to have these beliefs. While the patient participants felt that GCs were primarily responsible for initiating these conversations, they also reported a personal sense of responsibility for raising questions. This study demonstrates that patients may expect GCs to address genesurance topics in a genetic counseling session, with specific expectations about the cost and coverage of genetic tests. Further studies will establish the most effective way to communicate this information to patients and examine whether and where within the scope of GC practice, genesurance discussions fall.

A foot path to diagnosis

tified on cranial ultrasound. There are only a few studies published on neurodevelopment of neonates with SEPCs, and the prognosis is still uncertain. Among 74 patients in the study population, SEPCs were diagnosed before the seventh postnatal day in 61 infants and were considered antenatal in origin, whereas SEPCs were newly identified after the 21st postnatal day in 5 infants and were considered postnatal in origin, as they were not seen on previous ultrasounds. Subependymal pseudocysts were distinguished as germinolytic cysts or frontal horn cysts based on location. Various comorbidities, such as congenital cytomegalovirus (CMV) infection, microcephaly, cardiac disease,metabolic disease, and genetic disease, were documented. Among 65 infants with normal neurological examinations at birth, 1 died postnatally, 8 were diagnosed with congenital CMV, and 56 were healthy. The mean developmental quotients at 6, 18, and 46 months were 98.2, 94.6, and 99.6, respectively. When the premature infants with SEPCswere matched with premature infants without SEPCs, there was no statistically significant difference in themean developmental quotient. The authors conclude that newborns diagnosed with SEPCs with a normal initial neurological examination and without CMV undergo normal neurodevelopment. They emphasize the importance of distinguishing SEPCs from cystic periventricular leukomalacia, which has a worse prognosis.

Images in obstetricsA foot path to diagnosis: Prenatal sonographic identification of dorsal foot edema suggests Turner syndrome

tified on cranial ultrasound. There are only a few studies published on neurodevelopment of neonates with SEPCs, and the prognosis is still uncertain. Among 74 patients in the study population, SEPCs were diagnosed before the seventh postnatal day in 61 infants and were considered antenatal in origin, whereas SEPCs were newly identified after the 21st postnatal day in 5 infants and were considered postnatal in origin, as they were not seen on previous ultrasounds. Subependymal pseudocysts were distinguished as germinolytic cysts or frontal horn cysts based on location. Various comorbidities, such as congenital cytomegalovirus (CMV) infection, microcephaly, cardiac disease,metabolic disease, and genetic disease, were documented. Among 65 infants with normal neurological examinations at birth, 1 died postnatally, 8 were diagnosed with congenital CMV, and 56 were healthy. The mean developmental quotients at 6, 18, and 46 months were 98.2, 94.6, and 99.6, respectively. When the premature infants with SEPCswere matched with premature infants without SEPCs, there was no statistically significant difference in themean developmental quotient. The authors conclude that newborns diagnosed with SEPCs with a normal initial neurological examination and without CMV undergo normal neurodevelopment. They emphasize the importance of distinguishing SEPCs from cystic periventricular leukomalacia, which has a worse prognosis.