Catherine Wicklund

Hereditary multiple exostosis and pain.

This study was undertaken to characterize pain in individuals with hereditary multiple exostosis (HME). Two hundred ninety-three patients with HME completed a questionnaire designed to assess pain as well as its impact on their life. Eighty-four percent of participants reported having pain, indicating that pain is a real problem in HME. Of those with pain, 55.1% had generalized pain. Two factors were found to be associated with pain outcome: HME-related complications and surgery. Individuals who had HME-related complications were five times more likely to have pain, while those who had surgery were 3.8 more likely to have pain. No differences were found between males and females with respect to pain, surgery, or HME-related complications. The results of this study indicate that the number of individuals with HME who have pain has been underestimated and that pain is a problem that must be addressed when caring for individuals with HME.

Characterizing genetic variants for clinical action

Genome‐wide association studies, DNA sequencing studies, and other genomic studies are finding an increasing number of genetic variants associated with clinical phenotypes that may be useful in developing diagnostic, preventive, and treatment strategies for individual patients. However, few variants have been integrated into routine clinical practice. The reasons for this are several, but two of the most significant are limited evidence about the clinical implications of the variants and a lack of a comprehensive knowledge base that captures genetic variants, their phenotypic associations, and other pertinent phenotypic information that is openly accessible to clinical groups attempting to interpret sequencing data. As the field of medicine begins to incorporate genome‐scale analysis into clinical care, approaches need to be developed for collecting and characterizing data on the clinical implications of variants, developing consensus on their actionability, and making this information available for clinical use. The National Human Genome Research Institute (NHGRI) and the Wellcome Trust thus convened a workshop to consider the processes and resources needed to: (1) identify clinically valid genetic variants; (2) decide whether they are actionable and what the action should be; and (3) provide this information for clinical use. This commentary outlines the key discussion points and recommendations from the workshop.

Racial-Ethnic Differences in Genetic Amniocentesis Uptake

The objective of this study was to determine the role of health beliefs in genetic amniocentesis acceptance in a diverse racial-ethnic population. Participants completed a previously-validated questionnaire consisting of three sections: (1) demographics, (2) amniocentesis knowledge, and (3) health beliefs, which assessed perceived susceptibility, seriousness of potential impact, benefits of testing, and barriers to testing. The results showed that Hispanic women were less likely to accept amniocentesis (51.5% vs. Caucasian 82.8%, African American 82.9%, Asian 82.8%). Education level was the only demographic factor higher among acceptors. Women who accepted amniocentesis had higher perceived seriousness, susceptibility, and benefits HBM scores and higher knowledge scores than women who declined. HBM scores and knowledge predicted the amniocentesis decision correctly 91.5% of the time. Individual health beliefs and knowledge play a greater role in genetic amniocentesis acceptance than do demographic factors such as race-ethnicity.

The Economics of Genomic Medicine: Insights From the IOM Roundtable on Translating Genomic-Based Research for Health

The recent exponential decline in the cost of sequencing human genomes to within an order of magnitude of

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

1000 has led to increased use of this technology in a variety of research and clinical settings. Examples of clinical sequencing success stories for diagnosing rare conditions are increasingly common and sequencing of tumor samples is being performed in many academic cancer centers to help guide care.

Awareness and attitudes regarding prenatal testing among Texas women of childbearing age

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.

Expanding the genetic counseling workforce: program directors’ views on increasing the size of genetic counseling graduate programs

Despite increased visibility and availability of prenatal testing procedures, very little is known about the attitudes among the populace toward these procedures. Using a computer assisted telephone interview of pregnant and non-pregnant women of childbearing age we analyze awareness and attitudes regarding prenatal tests among a diverse group of women of childbearing age in Texas. We also examine maternal characteristics associated with awareness and the willingness to undergo these procedures. While 89% were aware that such tests are available, younger, black and less educated women were less likely to know about prenatal tests for birth defects. Seventy-two percent of respondents said they would want their baby tested while Hispanic and black women were significantly more likely to express an interest than non-Hispanic whites. This study demonstrates the variability of knowledge and beliefs and confirms the importance of taking time to understand an individual’s personal beliefs, knowledge and attitudes about prenatal diagnosis.

Adapting genetic counseling training to the genomic era: more an evolution than a revolution.

Purpose:Although there is an anticipated need for more genetic counselors, little is known about limitations at the graduate training level. We evaluated opportunities for growth of the genetic counseling (GC) workforce by exploring program directors’ perspectives on increasing number of graduate trainees.Methods:Thirty US-based GC program directors (PDs) were recruited through the Association of Genetic Counseling Program Directors’ listserv. Online surveys and semistructured phone interviews were used to explore factors impacting the expansion of the GC workforce.Results:Twenty-five PDs completed the survey; 18 interviews were conducted. Seventy-three percent said they believe that the workforce is growing too slowly and the number of graduates should increase. Attitudes were mixed regarding whether the job market should be the main factor driving workforce expansion. Thematic analysis of transcripts identified barriers to program expansion in six categories: funding, accreditation requirements, clinical sites, faculty availability, applicant pool, and physical space.Conclusion:General consensus among participants indicates the importance of increasing the capacity of the GC workforce pipeline. Addressing funding issues, examining current accreditation requirements, and reevaluating current education models may be effective strategies to expanding GC program size. Future research on increasing the number of GC programs and a needs assessment for GC services are suggested.Genet Med 18 8, 842–849.

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

Genetic counselors, like other healthcare professionals, are continually challenged to keep abreast of up-todate, evidence-based information regarding their practice. In particular, we are tasked with trying to keep pace with technological advancements in genomics. Without a doubt, the content covered in our graduate and continuing education curriculum with regard to genetic screening and testing has significantly changed over time. In 20 years, we have seen maternal serum screening for aneuploidy transition from a single analyte second trimester blood test to a multi-analyte first and/or second trimester test that can include a nuchal translucency measurement to DNA-based non-invasive prenatal screening. We have seen cytogenetic analysis move beyond the identification of aneuploidies and large structural defects to comprehensive chromosomal microarray analyses. Testing for relatively common single gene disorders like Fragile X syndrome, Huntington disease, and cystic fibrosis has changed dramatically. Furthermore, gone are the days of having to wait months for the results of the Sanger sequence analysis of a single gene. Now, next-generation panel tests can provide a plethora of information in just a few short weeks. The introduction of each of these technological advances required adjustments to our genetic counseling curriculum and continuing education programs. But one of the strengths of our profession is that we are trained in fundamental core genetic counseling competencies that can be applied across diverse practice settings and readily adapted to changes in practice brought forth by new technologies. As a result, even in the face of these rather significant changes, the four domains that define the competencies of genetic counselors: genetics expertise and analysis; interpersonal, psychosocial, and counseling skills; education; and professional development and practice (Accreditation Council of Genetic Counseling 2013a, b) have remained largely the same. As new technology is adopted, it is critically important for program directors and practicing professionals to evaluate whether fundamental changes in genetic counselors’ knowledge, skills, and attitudes, and ultimately genetic counseling practice, are required. In this issue Hooker et al. (2013) discuss the significant challenges of integrating genomics into the training of genetic counseling students and practicing professionals. We agree with many of the points made by the authors, however, we assert that these are no more significant than the other challenges we have faced with incorporating new content in the program curriculum. In addition, Hooker et al. discuss that large-scale, clinical genomic sequencing results in a paradigm shift in the practice of medical genetics. We struggle with the term “paradigm shift” given that the definition of a paradigm shift is “a radical change in underlying beliefs or theories,” (Collins English Dictionary 2014). The scale of information provided by genomic sequencing definitely poses challenges in areas such as pre-test informed consent as well as interpretation and disclosure of test results. But do these challenges truly constitute a paradigm shift or are these just the same issues we have faced in the past but on a much larger scale and in a slightly different context? We believe that it is the latter. Anytime new technology is implemented in clinical care, new content must be added to the existing training curriculum and continuing education programs. It may be important to expand specific topics, change the emphasis, and/or present information from a different frame of reference, but the foundation to do so should already be in place. For instance with C. Wicklund (*) Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, 676 N. St. Clair, Suite 1280, Chicago, IL 60611, USA e-mail: c-wicklund@northwestern.edu

Challenges and Opportunities for Genomics Education: Insights from an Institute of Medicine Roundtable Activity.

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.