Introduction to the Special Issue on Genetic Counseling: A Global Perspective

This special issue of the Journal of Genetic Counseling is focused on the global genetic counselling community and includes commentaries, original research and multiple brief reports describing both established formal genetic counselling services and training programs as well as services and programs that are currently in development.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/147216/1/jgc40685.pd

Presented Abstracts from the Thirty Third Annual Education Conference of the National Society of Genetic Counselors (New Orleans, LA, September 2014)

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/146864/1/jgc41067.pd

Primary care physicians’ understanding and utilization of pediatric exome sequencing results

Optimizing exome sequencing (ES) utility requires effective communication and collaboration between primary care physicians (PCPs) and genetics healthcare providers (GHP). To explore how PCPs use ES results to coordinate multipart management plans for complex pediatric patients, we assessed result understanding and utilization. Twenty‐seven PCPs of pediatric patients with ES results from a genetics clinic completed a mixed methods 45‐question survey measuring perceived genetics knowledge, confidence performing genetics tasks, understanding of ES technology and results, and expectations of GHP. Quantitative and qualitative data analysis classified by ES result types generated descriptive statistics, Pearson correlation coefficients, and common themes. Forty‐five‐percent of PCPs interpreted variant of uncertain significance results as diagnostic (implementing management changes and recommending familial testing). Most PCPs (85%) identified positive ES results impacts, but only 65% indicated ES was beneficial to care. The majority (74%) expected GHP and patients’ families to assume follow‐up care responsibility and future ES results re‐interpretations. Limited knowledge may be a factor, as 59% desired more patient care information from GHP. Our results suggest optimizing continuity of care and collaboration for pediatric patients with ES results requires additional communication between GHP and PCPs, along with continuing genetics education for PCPs aimed at improving genetic literacy.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/153256/1/jgc41163-sup-0001-DATAS1.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/153256/2/jgc41163_am.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/153256/3/jgc41163.pd

Peering into a Chilean Black Box: Parental Storytelling in Pediatric Genetic Counseling

While genetic counseling has expanded to multiple international settings, research about providing culturally sensitive services to non‐U.S. patients is limited. To gain insights, we utilized a process study to explore parental communication in pediatric genetics clinics in Chile. We utilized a phenomenological hermeneutic approach to assess storytelling in six pediatric sessions that were conducted in Spanish, and translated into English. The majority of the sessions focused on information gathering (35 %), and providing medical (20 %) and genetics education (18 %). The 14 instances of storytelling we identified usually emerged during information gathering, genetics education, and the closing of the session. Stories illustrated parental efforts to create a cognitive and emotional context for their child’s genetic diagnosis. Parents emerged as competent caregivers who discussed the role of the child as a social being in the family and the larger community. Our analysis found that genetic counseling sessions in the U.S. and Chile are structured similarly and although communication is not a balanced process, parents use storytelling to participate as active agents in the session. Via storytelling, we learned that parents are working to understand and gain control over their child’s genetic diagnosis by relying on mechanisms that extend beyond the genetics appointment.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/147212/1/jgc40805.pd

Optimizing efficiency and skill utilization: Analysis of genetic counselors’ attitudes regarding delegation in a clinical setting

This study assessed genetic counselors’ (GCs) perceptions of delegation as a tool to increase workforce efficiency and help meet the current gap between the number of genetic service providers and the number of patients. GCs were recruited to participate via an online survey that assessed activities (categorized as typical genetic counseling, administrative, or professional development) performed by a clinical genetic counselor. Respondents indicated which activities represent their largest time consumers, their willingness to delegate these activities, and barriers to and perceived outcomes of delegation. Overall, respondents indicated that they spend 25% of their time performing administrative activities that they would largely be willing to delegate; however, respondents were generally unwilling to delegate many typical genetic counseling and professional development activities, citing concerns regarding accuracy and liability, and highlighting the belief that these activities constitute the core role of a genetic counselor. Respondents indicated that delegation of time‐consuming administrative activities would increase access to genetic services and improve job satisfaction. Additionally, differences were identified among clinical specialties regarding which activities were selected as top time consumers, indicating that potential targets of re‐allocation of time or delegation may be variable. This research indicates a need to reduce the number of administrative tasks in which GCs are directly involved to re‐allocate time toward core responsibilities, direct patient care, and professional development, the result of which is more efficient use of the GC skill‐set.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/154327/1/jgc41181.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/154327/2/jgc41181_am.pd

Presented Abstracts from the Thirty Fourth Annual Education Conference of the National Society of Genetic Counselors (Pittsburgh, PA, October 2015)

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/147137/1/jgc41044.pd

Parents’ Perspectives on Variants of Uncertain Significance from Chromosome Microarray Analysis

Chromosomal microarray analysis (CMA) for unexplained anomalies and developmental delay has improved diagnosis rates, but results classified as variants of uncertain significance (VUS) may challenge both clinicians and families. We explored the impact of such results on families, including parental knowledge, understanding and interpretation. Semi‐structured telephone interviews were conducted with parents (N = 14) who received genetic counseling for a VUS in their child. Transcripts were analyzed through an iterative coding process. Participants demonstrated a range of recall and personal interpretation regarding whether test results provided a causal explanation for their children’s health issues. Participants maintained contradictory interpretations, describing results as answers while maintaining that little clarification of their child’s condition had been provided. Reported benefits included obtaining medical services and personal validation. Parents described adaptation/coping processes similar to those occurring after positive test results. Recall of terminology, including “VUS” and precise CMA abnormalities, was poor. However, most demonstrated conceptual understanding of scientific uncertainty. All participants expressed intentions to return for recommended genetics follow‐up but had misconceptions about how this would occur. These results provide insight into the patient‐and‐family experience when receiving uncertain genomic findings, emphasize the importance of exploring uncertainty during the communication process, and highlight areas for potential attention or improvement in the clinical encounter.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/146918/1/jgc40101.pd

Ehlers–Danlos syndrome, hypermobility type: A characterization of the patients' lived experience

Hypermobility type Ehlers–Danlos syndrome (EDS‐HT) is an inherited connective tissue disorder clinically diagnosed by the presence of significant joint hypermobility and associated skin manifestations. This article presents a large‐scale study that reports the lived experience of EDS‐HT patients, the broad range of symptoms that individuals with EDS‐HT experience, and the impact these symptoms have on daily functioning. A 237‐item online survey, including validated questions regarding pain and depression, was developed. Four hundred sixty‐six (466) adults (90% female, 52% college or higher degree) with a self‐reported diagnosis of EDS‐HT made in a clinic or hospital were included. The most frequently reported symptoms were joint pain (99%), hypermobility (99%), and limb pain (91%). They also reported a high frequency of other conditions including chronic fatigue (82%), anxiety (73%), depression (69%), and fibromyalgia (42%). Forty‐six percent of respondents reported constant pain often described as aching and tiring/exhausting. Despite multiple interventions and therapies, many individuals (53%) indicated that their diagnosis negatively affected their ability to work or attend school. Our results show that individuals with EDS‐HT can experience a wide array of symptoms and co‐morbid conditions. The degree of constant pain and disability experienced by the majority of EDS‐HT respondents is striking and illustrates the impact this disorder has on quality of life as well as the clinical challenges inherent in managing this complex connective tissue disorder. © 2013 Wiley Periodicals, Inc.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/101781/1/ajmga36293.pd

A Qualitative Study of Anticipated Decision Making around Type 2 Diabetes Genetic Testing: the Role of Scientifically Concordant and Discordant Expectations

Type 2 diabetes mellitus (T2DM) genetic testing is undergoing clinical trials to measure the efficacy of genetic counseling for behavior‐based risk reduction. The expectations patients bring to the testing process may play an important role in individual outcomes. We conducted a qualitative exploration of anticipated decision‐making and expectations around T2DM genetic testing. Semi‐structured interviews were completed with Mexican Americans (n = 34), non‐Hispanic Black Americans (n = 39), and non‐Hispanic White Americans (n = 39) at risk for T2DM. Transcripts were analyzed for themes. Most participants would accept T2DM genetic testing in order to motivate risk‐reducing behaviors or apprise family members of their risk. Participants who would decline testing wished to avoid emotional distress or believed the test would not reveal new risk information. Non‐Hispanic Whites and those with college education declined genetic testing more often than other groups. Those without college education were more likely to have testing expectations that were discordant with current science, such as conflating genetic testing with common ‘blood tests.’ Understanding expectations and decision‐making factors around T2DM genetic testing will better prepare healthcare professionals to counsel their patients. This may lead to a higher efficacy of T2DM genetic testing and counseling.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/147076/1/jgc40469.pd

Quality of Life and Autonomy in Emerging Adults with Early‐Onset Neuromuscular Disorders

Emerging adulthood is an important period in the development of one’s identity and autonomy. The ways in which identity and autonomy are viewed by emerging adults and how they impact quality of life (QoL) in individuals with early‐onset neuromuscular conditions is not yet known. This study focused on understanding and exploring relationships between self‐perceptions of emerging adulthood, autonomy, and QoL. Five previously validated measures were incorporated into an online survey and distributed to young adults with early‐onset neuromuscular conditions and unaffected controls. Topics explored included individuals’ views regarding their overall QoL, disease‐specific QoL, components of emerging adulthood, and autonomy. We found that a sense of higher disease impact was associated with a lower Overall General QoL. Additionally, perceptions of key autonomy factors “negativity” and “instability” were uniquely associated with Overall General QoL in the case group as compared to controls, whereas “attitudinal autonomy” (attaining the ability to plan and follow through with goals) was important to this age group regardless of health status. The specific factors of emerging adulthood and autonomy that were significantly correlated with Overall General QoL can be used for developing targeted counseling and interventions to improve QoL for individuals and their families.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/146967/1/jgc40713.pd