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

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.

Purpose: To assess factors affecting individuals' decision to accept or decline cystic fibrosis carrier testing/ screening, as reported in studies published until December 2006. The Health Belief Model guided classification of each factor, and the studies' methodological quality was assessed. Methods: A three-stage search and retrieval process, alongside application of specific inclusion/exclusion criteria, yielded 40 studies (in 35 articles). For each reviewed study, authors abstracted and organized selected data into a matrix and assigned a methodological quality score. Results: The four most frequently identified acceptance factors included three Health Belief Model factors and one non-Health Belief Model factor: perceived benefits of undergoing cystic fibrosis carrier testing/ screening, weaker perception of barriers to cystic fibrosis carrier testing/screening, fewer/no children or desiring children, and research-related factors (non-Health Belief Model factor construct). All four most frequent factors associated with declining testing were Health Belief Model factor constructs: perceived barriers to obtaining cystic fibrosis carrier testing/screening, parity, lack of knowledge, and weaker perception of benefits of undergoing cystic fibrosis carrier testing/screening. The average methodological quality of the studies was 10.2 (SD ϭ 3.2; range, 5-18 points). Conclusions: The methodological and theoretical quality of this body of literature could be substantially improved if researchers employed theory-based approaches, tested (and reported) the validity/reliability of their own data, and employed multivariate statistical analyses and/or better controlled research designs. Improving the quality of future studies may allow better inferences regarding the relative contribution of each factor identified in this review to individuals' decision-making process. Genet Med 2007:9(7):442-450. Key Words: cystic fibrosis, factors, carrier testing, carrier screening, systematic reviewAs the most frequent autosomal recessive disease among whites, cystic fibrosis (CF) affects nearly one in 2500 livebirths within this group, and approximately 1 in 25 white individuals are carriers. 1 After scientists identified the CF gene in 1989 and developed sensitive tests (able to detect mutations associated with CF among 75-95% of carriers 2,3 ), carrier testing/screening became feasible and an important aid in preventing or managing CF. 4 Carrier testing for CF provides individuals with relevant information for family planning and for the purpose of preventing or preparing for an affected child because early diagnosis can reduce medical costs and lessen parents' suffering due to uncertainty. 5 Even though professional organizations have recommended CF carrier screening and providers have made testing a routine obstetric practice since 2001, 6 -8 uptake of the test remains relatively low, especially for preconception purposes. Murray et al. 5 documents an average acceptance rate for prenatal CF carrier testing of 74% (range, 59 -99%) ...

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Because US health educators in our sample do not appear ready for their professional role in genomics, future research and public health work-force training are needed.