Lei-Shih Chen

Decision to abort after a prenatal diagnosis of sex chromosome abnormality: a systematic review of the literature

We performed a systematic review of factors affecting parental decisions to continue or terminate a pregnancy after prenatal diagnosis of a sex chromosome abnormality, as reported in published studies from 1987 to May 2011. Based on the Matrix Method for systematic reviews, 19 studies were found in five electronic databases, meeting specific inclusion/exclusion criteria. Abstracted data were organized in a matrix. Alongside the search for factors influencing parental decisions, each study was judged on its methodological quality and assigned a methodological quality score. Decisions either to terminate or to continue a sex chromosome abnormality-affected pregnancy shared five similar factors: specific type of sex chromosome abnormality, gestational week at diagnosis, parents’ age, providers’ genetic expertise, and number of children/desire for (more) children. Factors unique to termination decisions included parents’ fear/anxiety and directive counseling. Factors uniquely associated with continuation decisions were parents’ socioeconomic status and ethnicity. The studies’ average methodological quality score was 10.6 (SD = 1.67; range, 8–14). Findings from this review can be useful in adapting and modifying guidelines for genetic counseling after prenatal diagnosis of a sex chromosome abnormality. Moreover, improving the quality of future studies on this topic may allow clearer understanding of the most influential factors affecting parental decisions.Genet Med 2012:14(1):27–38

Autism genetic testing: a qualitative study of awareness, attitudes, and experiences among parents of children with autism spectrum disorders

Purpose:The goal of this first-of-its-kind qualitative study was to examine the awareness, attitudes, and experiences among parents of autistic children regarding autism genetic testing.Methods:We conducted in-depth, individual, and semistructured interviews with 42 parents of autistic children with diverse racial/ethnic backgrounds. All interviews were audio-taped, transcribed, and coded into major themes and subthemes.Results:Approximately one-quarter of participants had two or more autistic children, and about half of them were ethnic/racial minorities. The majority of participants postulated favorable attitudes toward autism genetic testing for three main reasons: early intervention and treatment, identifying the etiology of autism, and informed family planning. Nevertheless, among parents who had taken their children for genetic testing, some expressed frustration and questioned the competency of their providers in interpreting test results. Asian parents and those with a low socioeconomic status expressed lower awareness and tended to have more limited access to autism genetic testing.Conclusion:As health-care providers play a vital role in providing genetic services and education, these professionals should be educated and be sensitive to the needs of parents with autistic children. Further quantitative research is required to examine the effects of socio-demographic factors on parents’ awareness, attitudes, and experiences regarding autism genetic testing.Genet Med 2013:15(4):274–281

Autism spectrum disorders: a qualitative study of attitudes toward prenatal genetic testing and termination decisions of affected pregnancies

In the United States, prenatal genetic testing (PGT) for Autism Spectrum Disorders (ASD) is currently available via clinical genetic services. Such testing may inform parents about their unborn childs risk for ASD, prepare parents for the birth of an affected infant, and allow them to arrange for early interventions. Although PGT for autism has potential benefits, the associated ethical, legal, and social implications (ELSI) should be considered. This first qualitative study employed a hypothetical scenario to explore the attitudes toward PGT and termination decisions of 42 parents of children with ASD. Over half of the participants expressed willingness to undergo PGT for autism. Reasons included better preparation for birth, early and better treatment, termination of affected pregnancy, contribution to research, and curiosity. Of the 31 parents who were either willing or unsure about undergoing the PGT, approximately three‐fourths would continue their hypothetical affected pregnancies. Explanations included preparation for birth of the child, bonding or acceptance of existing ASD‐affected children, apprehensions about test limitations, and religious concerns. Parents who reported they would terminate the affected pregnancy in this hypothetical situation were primarily Asians. This study contributes to the growing understanding of the ELSI aspects of PGT in clinical practice.

Risk Perceptions and Family History of Lung Cancer: Differences by Smoking Status

Background: Individuals with a family history of lung cancer have a two- to threefold increased risk for developing this disease. Family history information may be useful in lung cancer prevention and control approaches, but research is needed regarding how individuals interpret this information. This study examined associations between lung cancer family history and individuals’ risk perceptions, based on smoking status. Methods: Data were analyzed from 5,105 U.S. adult respondents to the 2005 Health Information National Trends Survey, which was conducted with a nationally representative sample. Results: In multivariate models, family history of lung cancer was positively associated with absolute and relative risk perceptions among all respondents (β = 0.60, 95% CI = 0.33–0.87 and β = 0.17, 95% CI = 0.04–0.31, respectively) and among never smokers (β = 0.40, 95% CI = 0.14–0.67 and β = 0.14, 95% CI = 0.01–0.27, respectively). However, these associations were not significant for current and former smokers. Conclusion: While perceived risk was associated with family history of lung cancer among never smokers, this was not true for other smoking status subgroups. Therefore, former and current smokers might not respond as intended to cancer prevention or cessation messages tailored based on family history. The results suggest directions for future research into how to best integrate family history information into prevention and control efforts.

Genetics/genomics education for nongenetic health professionals: a systematic literature review

Purpose:The completion of the Human Genome Project has enhanced avenues for disease prevention, diagnosis, and management. Owing to the shortage of genetic professionals, genetics/genomics training has been provided to nongenetic health professionals for years to establish their genomic competencies. We conducted a systematic literature review to summarize and evaluate the existing genetics/genomics education programs for nongenetic health professionals.Methods:Five electronic databases were searched from January 1990 to June 2016. Results:Forty-four studies met our inclusion criteria. There was a growing publication trend. Program participants were mainly physicians and nurses. The curricula, which were most commonly provided face to face, included basic genetics; applied genetics/genomics; ethical, legal, and social implications of genetics/genomics; and/or genomic competencies/recommendations in particular professional fields. Only one-third of the curricula were theory-based. The majority of studies adopted a pre-/post-test design and lacked follow-up data collection. Nearly all studies reported participants’ improvements in one or more of the following areas: knowledge, attitudes, skills, intention, self-efficacy, comfort level, and practice. However, most studies did not report participants’ age, ethnicity, years of clinical practice, data validity, and data reliability.Conclusion:Many genetics/genomics education programs for nongenetic health professionals exist. Nevertheless, enhancement in methodological quality is needed to strengthen education initiatives.Genet Med advance online publication 20 October 2016

Autism genetic testing information needs among parents of affected children: A qualitative study

OBJECTIVE Leading health agencies recommend physicians to provide information regarding genetic testing for autism spectrum disorders (ASD) to parents of affected children. How to effectively provide this information, however, is unclear for physicians. This qualitative study examined the information needs regarding ASD genetic testing among parents of affected children. METHODS Semi-structured, in-depth interviews were conducted with 42 parents who had at least one child with ASD. Content analysis was utilized to analyze the interview data. RESULTS The majority of parents (83%) reported they had never received information regarding ASD genetic testing from their doctors. Nevertheless, most parents (86%) expressed an interest to learn about this information. Their preferred topics included: cost (60%), benefits (48%), accuracy (38%), test procedure (29%), potential physical harms from the test (29%), confidentiality (12%), previous utilization by other affected families (2%), and eligibility criteria for this genetic testing (2%). Moreover, parents mentioned various methods to facilitate their learning, including Web-based approaches (43%), workshops/seminars (36%), brochures and flyers (31%), and videos (10%). CONCLUSION To promote parental informed decision-making regarding ASD genetic testing, educational materials should be developed based on our findings. PRACTICE IMPLICATIONS Application of these needs assessment findings will subsequently improve the delivery of healthcare services.

Effectiveness of a Web-based genomics training for health educators in Texas

Purpose: With advanced genomic developments, better prevention strategies are available via personalized genomic services. Because there is a shortage of genetic professionals, and primary-care providers are overwhelmed with routine practice, involving health educators—whose expertise includes educating the general public and promoting healthy behavior—to provide basic genomics education may facilitate better services. We developed the first evidence- and theory-based family health history Web-based training for Texas health educators. This report presents its evaluation results.Methods: Approximately one-third of Texas health educators holding (Master) Certified Health Education Specialist designation (~40% were racial/ethnic minorities) participated in the family health history Web-based training. Attitudes, self-efficacy, intention, knowledge, and practice were assessed at baseline, immediately after training, and 3 months posttraining. Qualitative data were collected to provide additional evaluation findings.Results: Participants significantly improved their attitudes, knowledge, intention, and self-efficacy regarding family health history education, immediately posttraining and after 3 months. The number of participants practicing family health history was significantly increased. Participants’ overall assessment of the program was positive.Conclusion: This family health history Web-based training successfully increased the number of genomically competent and culturally diverse Texas health educators. Ongoing efforts are needed to sustain and expand this education as well as to disseminate it to all health educators in the United States.Genet Med 2014:16(3):271–278

Genomics Education Training Needs of U.S. Health Educators: A (Qualitative) Pilot Study

As genomic advances have turned the promise of personalized prevention and health promotion into a concrete possibility in the near future, scholars and the Centers for Disease Control and Prevention have begun to call for U.S. health educators to develop their genomic competencies. This advocacy, however, begs the question whether health educators feel the need for further genomic training. Using an emergent design, the authors analyze qualitative data obtained from in-depth interviews with 24 health educators in the United States. Data are searched for salient, emergent themes (salience is determined by the frequency of a theme’s occurrence across interviews). Findings indicate that although the majority (78.3%) of health educators have received minimal or no genomic education, 81.0% acknowledge the importance of adding some type of training to their future professional development. Participants suggest conference presentations, workshops, and symposia (54.5%) as the most preferable approach for delivering such training. The four most frequently desired training topics include applied genetics/genomics (85.7%), basic genetics/genomics (42.9%), current and future developments in genetics/genomics (28.6%), and genetic testing and screening (19.0%). Findings from this qualitative study can become catalysts for future examinations of this topic and provide the conceptual basis for developing genomics training materials specifically for health educators.

Needs assessment in genomic education: a survey of health educators in the United States.

The knowledge of genomic discoveries has been expanding daily, holding enormous potential to improve population health. Nevertheless, the training of health educators about genomics is lagging behind. To facilitate the movement of genomics into health promotion practice, as the first step, we conducted the first national survey to examine genomic education needs among health educators in the United States. A total of 980 health educators holding the Certified Health Education Specialist designation completed our web-based survey. The majority of participants reported that they had limited knowledge and training in genomics and were interested in seeking genomic education. Their first three preferred educational topics included genomic disorders/diseases (68.2%), family health history or genetic risk assessments (55.5%), and how to link genomics to health promotion (51.0%). A few contents, including basic genomic concepts, communication skills, and how to integrate genomics into routine professional tasks, were important to health educators’ practice in genomics, but respondents seemed to be less favorable toward learning these contents. Continuing education (89.4%), web-based training (85.9%), and professional conferences (76.7%) were participants’ top three desired delivery methods. This study will help guide the development, implementation, and evaluation of future genomic training programs for U.S. health educators.

Development and evaluation of a genomics training program for community health workers in Texas

PurposeGenomics services have the potential to reduce incidence and mortality of diseases by providing individualized, family health history (FHH)-based prevention strategies to clients. These services may benefit from the involvement of community health workers (CHWs) in the provision of FHH-based genomics education and services, as CHWs are frontline public health workers and lay health educators, who share similar ethnicities, languages, socioeconomic statuses, and life experiences with the communities they serve. We developed, implemented, and evaluated the FHH-based genomics training program for CHWs.MethodsThis theory- and evidence-based FHH-focused genomics curriculum was developed by an interdisciplinary team. Full-day workshops in English and Spanish were delivered to 145 Texas CHWs (91.6% were Hispanic/black). Preworkshop, postworkshop, and 3-month follow-up data were collected.ResultsCHWs significantly improved their attitudes, intention, self-efficacy, and knowledge regarding adopting FHH-based genomics into their practice after the workshops. At 3-month follow-up, these scores remained higher, and there was a significant increase in CHWs’ genomics practices.ConclusionThis FHH-based genomics training successfully educated Texas CHWs, and the outcomes were promising. Dissemination of training to CHWs in and outside of Texas is needed to promote better access to and delivery of personalized genomics services for the lay and underserved communities.