Anne L. Matthews

Parental Attitudes toward Genetic Testing for Pediatric Deafness

Recent molecular genetic advances have resulted in genetic testing becoming an option for deaf individuals and their families. However, there is little information about the interest in such testing. To investigate this issue, parents with normal hearing who have one or more deaf children were surveyed about their attitudes toward diagnostic, carrier, and prenatal genetic testing for deafness. This population was chosen because it represents the majority of individuals who are encountered in clinical practice, given that 90%-95% of deaf individuals are born to persons with normal hearing. Of 328 surveys distributed, 96 were completed and returned. Of the respondents, 96% recorded a positive attitude toward genetic testing for deafness, including prenatal testing, although none would use this information to terminate an affected pregnancy. All respondents had a poor understanding of genetics, with 98% both incorrectly estimating the recurrence risk of deafness and misunderstanding the concept of inheritance. Notably, these findings were similar in the group who had had genetic testing for their children and in the group who had not, suggesting either that the parents who received genetic testing did not receive genetic counseling or that the counseling was not effective. On the basis of these results, it was concluded that this population is interested in the use of genetic testing and that testing should not be done without first providing formal genetic counseling. Appropriate counseling can help parents to understand the risks, benefits, and limitations of genetic testing.

Attitudes of African American premedical students toward genetic testing and screening.

Purpose: Genetic research is progressing at a rapid rate. While most view genetic advances favorably, concerns regarding eugenics and discrimination based on genetic test results have been raised. These concerns have been found among all groups studied; however, they have particular relevance for members of the African American community. Studies have shown that because of a long history of negative experiences, African Americans have a general mistrust of the medical establishment. It is unclear whether these negative attitudes encompass genetic advances. Because there is little empiric data in the literature, it is not known whether African Americans have a positive view of genetic advances or whether they have the same level of mistrust as is seen in their attitudes toward other forms of biomedical research.Methods: This study was conducted as an initial effort to examine the attitudes of African Americans toward recent genetic advances and, specifically, genetic testing. A cohort of 97 college-age minority students, including 78 African Americans, participating in the Health Career Enhancement for Minorities Program (HCEM) at Case Western Reserve University were surveyed. Surveys were made available before and after the summer long course, which included five lectures on basic genetic principles and medical genetics.Results: Both African American students and other minority students initially (questionnaire prior to HCEM course) had an overall positive view of genetic testing. The vast majority supported genetic testing for preventive care (95%) and presymptomatic detection of disease (88%) and agreed that it should be easily available (83%). However, several concerns were expressed as well, including fears about discrimination (68%), privacy (68%), that abortions will become more common (51%), and eugenics (37%). It is interesting that in the postcourse questionnaire, the percentages of positive views remained similar to those of the precourse survey, but the number of respondents expressing concerns increased.Discussion: These results suggest that the minority students surveyed view many aspects of genetic testing and other advances favorably. However, these students expressed concerns about discrimination, privacy, and eugenics. These concerns were increased, not lessened, by exposure to genetics education. One possible explanation for this observation is that the students had a greater understanding of the issues regarding genetic testing after the HCEM lectures and discussion. Of note, there was a greater negative response toward genetic screening programs among the African American students compared with the non–African American minority students. This suggests that the negative attitudes of African Americans toward biomedical research do extend to some aspects of genetics and that educational programs must be designed and implemented if this community is going to receive the maximum benefits of this advancing technology.

Recommendations for telephone counseling

Telephone counseling can provide a convenient, accessible, and valuable source of information to the general public, health care providers, and other professionals. In the genetic counseling profession, telephone counseling is often associated with teratogen information services. However, genetic counselors routinely utilize the telephone in a number of different counseling encounters. Nevertheless, the literature provides very little guidance to how that encounter might be conducted, what information should be obtained and provided, or how the encounter should be documented. We present a brief overview of the history of telephone counseling, a description of the major differences between telephone counseling and a face-to-face counseling session, and a framework to optimize a telephone counseling session.

Genetic Testing and Genetic Counseling for Deafness: The Future Is Here

Today, genetic testing is an option for individuals who have deafness and hard‐of‐hearing conditions (D/HOH) and their families for diagnosis and carrier detection. As more and more D/HOH genes are identified, genetic testing will become commonplace. However, genetic testing is different from other tests that physicians commonly order and therefore should be conducted differently. The objective of this study was to determine the best manner in which to conduct genetic testing for individuals who have D/HOH.

Chromosomal abnormalities: Trisomy 18, trisomy 13, deletions, and microdeletions

The birth of an infant with a chromosomal abnormality such as trisomy 18, 13, Wolf-Hirschhorn (4p-) syndrome, Cri-du-chat (5p-) syndrome, and the microdeletion syndromes creates a stressful and devastating experience for families. Many of these disorders have severe consequences encompassing major malformations and mental retardation. With increasing diagnostic accuracy, clinicians can now appreciate the wide variability and natural history of these disorders. Although many of these infants do not survive the neonatal period, others do. Neonatal nurses have the opportunity to assist families in these situations by providing anticipatory guidance and care.

Developing a Model of Advanced Training to Promote Career Advancement for Certified Genetic Counselors: An Investigation of Expanded Skills, Advanced Training Paths, and Professional Opportunities

There are currently multiple paths through which genetic counselors can acquire advanced knowledge and skills. However, outside of continuing education opportunities, there are few formal training programs designed specifically for the advanced training of genetic counselors. In the genetic counseling profession, there is currently considerable debate about the paths that should be available to attain advanced skills, as well as the skills that might be needed for practice in the future. The Association of Genetic Counseling Program Directors (AGCPD) convened a national committee, the Committee on Advanced Training for Certified Genetic Counselors (CATCGC), to investigate varied paths to post-master’s training and career development. The committee began its work by developing three related grids that view career advancement from the viewpoints of the skills needed to advance (skills), ways to obtain these skills (paths), and existing genetic counselor positions that offer career change or advancement (positions). Here we describe previous work related to genetic counselor career advancement, the charge of the CATCGC, our preliminary work in developing a model through which to view genetic counselor advanced training and career advancement opportunities, and our next steps in further developing and disseminating the model.

Growth Deficiency in Cystic Fibrosis Is Observable at Birth and Predictive of Early Pulmonary Function

Introduction: Cystic fibrosis (CF) is a complex disease that includes both pulmonary and gastrointestinal challenges, resulting in decreased weight. Pulmonary symptoms of CF are extremely variable. Greater body mass at an early age is associated with improved pulmonary function, but it is unknown at what age weight becomes predictive of pulmonary disease severity. The purpose of this study was to investigate the relationship between birth weight and pulmonary function in CF. Methods: Birth weight and pulmonary data were obtained. Linear regressions were used to examine the relationship between these two variables. A one-tailed t-test was used to compare birth weights between CF patients and the national average. Results: Birth weight was significantly lower in babies with CF and correlated with pulmonary disease at ages 6 and 10 years but not with age at which Pseudomonas aeruginosa colonization was observed. Discussion: These data suggest that CF growth deficiency has prenatal origins. Early nutritional intervention for babies with CF and a low birth weight is warranted to maximize pulmonary potential.

How Might the Genetics Profession Better Utilize Social Media

Social media is a common method of communication in people’s personal lives and professional settings. Gallagher et al. (2016) recommended, “it is time for genetic counselors to embrace social media as a means of communicating with patients or other healthcare professionals.” Full members of the National Society of Genetic Counselors (NSGC) in the USA and Canada and genetics patients in Cleveland, OH, were surveyed to determine interest in using social media for patient-provider interactions. Both cohorts indicated that patient privacy and confidentiality would be a concern; however, survey results indicated patients would be interested in using social media to receive general information about genetic counseling and to learn about genetics services. Genetic counselors indicated privacy issues were not concerning if social media were to be used in this capacity. The majority of genetic counselor participants (88.7%) indicated they would welcome national guidelines for patient-provider social media use. Data from this study demonstrated that sharing what to expect at a genetic counseling appointment, defining genetic counseling, and announcing community outreach events are possible ways genetic counselors could utilize social media to communicate with and educate patients.

An assessment of health, social, communication, and daily living skills of adults with Down syndrome

Adults with Down syndrome (DS) are surviving longer, yet data delineating life skills are lacking. As providers are encouraged to provide a “balanced” description of DS to family members/caregivers, more quantitative data are required to accurately describe the abilities and potential of adults with DS. This study assessed health, social, communication, and daily living skills of adults with DS to describe the range of abilities and to show how increasing age contributes to functional abilities. Caregivers of an adult with DS 20 years of age or older participated in an online questionnaire. Descriptive statistics and scores from scales assessed relationships between the number of health issues reported and functional abilities, and how the abilities changed as age increased. Of 188 participants, 157 completed the survey with partial results included. Communication, independence, and social activity scores were compared to the number of congenital and non‐congenital health issues reported. Linear regression results showed those with more health issues were significantly less likely to be independent and social. However, only current health issues affected communication skills. No significant correlation occurred between the number of congenital abnormalities and scores for independence/life skills as an adult. T‐test by age group found decreasing abilities after 40 years of age. In conclusion, quantitative data and information from this study is beneficial for providers in order to describe the potential for an individual with DS and to assist caregivers to plan accordingly for the future of their adult with DS.