Interest In Genetic Counseling Research Articles

Young Adults with Sickle Cell Disease (SCD) Have Low Interest in Genetic Counseling and Sickle Cell Trait Testing for Sexual Partners

Introduction The 2014 NHLBI Sickle Cell Expert Panel recommends that young adults with sickle cell disease (SCD) be supported to develop a reproductive life plan, but little data about implementing this recommendation exists and reproductive health behaviors or knowledge is not assessed in existing SCD transition readiness forms. Young adults with SCD confront typical age-related reproductive challenges and require additional support due to SCD-related complexities. For men and women, there are questions about the effect of SCD and its treatments on fertility and reproductive lifespan and the problem of genetic risk for SCD in offspring. For men, priapism and erectile dysfunction may be problems, while women face contraception choices and complicated pregnancy care. In our young adult clinic, we assess young adults' reproductive history, intentions and knowledge using a clinical survey and standard intake questions. The purpose of this study was to describe young adult responses to our family planning survey. Methods This is a retrospective analysis of patients who established care at the Johns Hopkins Sickle Cell Center for Adults' Young Adult Clinic (YAC), which serves young adults with SCD <31 years. The survey is administered to all new patients, consists of 10 questions and has a Flesch-Kincaid Grade Level score of 6. A systematic chart review captured respondent demographic data to characterize the responses. Results Fifty patients who established care in the YAC over its first 15 months (April 2019-July 2020) completed the survey. They were 66% female with a median age of 23.5 (IQR 21,25). Most (74%) had sickle cell anemia (SCA); 60% had education beyond high school. Most (78%) were either students (34%) or employed full time (44%). Forty-two percent lived with a parent. Most (68%) were sexually active, and 45% reported contraception use. Condoms were commonly used by both sexes (41%); forty percent of women used depot-medroxyprogesterone acetate (DMPA). Half of women (58%) had a gynecologist. One third of women reported dysmenorrhea. Forty-one percent of men reported priapism. Twenty-four percent of respondents had a history of pregnancy or of impregnating a partner and 14% had children. The median age of parents at the birth of the first child was 21 (IQR 16,22). Survey results are in Table 1. The response rate was 98% for eight questions and 50% for two questions. Few (8%) reported desire to have a child in the next year, and 27% wished to discuss contraception. Among sexually active respondents, 29% knew their partner's sickle cell trait status and 35% of them wanted testing. Few respondents wanted to meet with a genetics counselor (12%) or reported knowledge of preimplantation genetic testing (PGT) (11%). Thirty-eight percent of respondents were interested in learning how to identify if a fetus has SCD. Ninety-two percent of respondents indicated they do not desire pregnancy in the next year, and 38% of them were using contraception - 33% used condoms, 22% used DMPA, and 11% had an intrauterine device (IUD). Those interested in contraception were young (68% under 26), female (77%), and, of those women, most did not have a gynecologist (60%). Most women with dysmenorrhea (63%) were not interested in discussing contraception. Of the 14% of respondents with children, 29% knew their partner's trait status; and of those who did not, 20% wanted testing. Among 10 patients interested in genetic counseling or who knew of PGT, half had more than high school education; most (70%) were women with SCA who had never been pregnant. Among 82% who had not heard of PGT, 17% identified interest in more information. Most (70%) of this group was 22-25 years old, 14% wanted a child in the next year, all were either students (43%) or employed full time (57%); most (57%) had education beyond high school. Conclusions Clinic administration of a family planning survey is feasible. Many young adults transition to adult care and are parents or interested in becoming parents. Ninety-two percent of respondents do not desire pregnancy in the near future but 67% of them are not using reliable birth control. Genetic counseling interest, knowledge of PGT, and knowledge of partner sickle trait status is low. Current transition readiness documents for SCD do not adequately address reproductive health. These results suggest a discordance between the reproductive health priorities of young adults with SCD and providers that should be further examined. Disclosures Stewart: HRSA: Research Funding. Lanzkron:GBT: Research Funding; HRSA: Research Funding; Ironwood: Research Funding; NHLBI: Research Funding; PCORI: Research Funding; Pfizer: Research Funding; Pharmacy Times Continuing Education: Honoraria; Prolong: Research Funding. Pecker:Forma Therapeutics: Consultancy.

Perceptions of genetic risk, testing, and counseling among individuals with eating disorders.

Eating disorders develop as a result of genetic and environmental factors. Given that they are multifactorial conditions with a genetic component, they fall within the scope of practice for genetic counseling, but people with these conditions are rarely referred. The purpose of this study was to explore the perceptions of causes of eating disorders, recurrence risk, and interest in genetic counseling and testing among individuals with eating disorders. An online survey comprising both multiple choice and free form text questions, vignettes about genetic counseling, and the ED100K (validated eating disorder diagnostic questionnaire) was shared via support organizations and prominent bloggers in the eating disorders community to recruit individuals with a personal history of an eating disorder from November 2018 to February 2019. In total, 107 participants completed the survey. They perceived that both experiences and genetics were important factors in the development of their eating disorder. All responding participants overestimated the risk for recurrence of eating disorders in children, often by a large margin, and a notable minority reported that their experience with an eating disorder had a negative influence on their childbearing decisions. After imagined experience of genetic counseling, participants reported significantly decreased feelings of stigma, shame, and guilt. Most participants expressed interest in genetic counseling; fewer were interested in genetic testing. Genetic counseling may benefit individuals with eating disorders by providing accurate recurrence risk information and reducing feelings of guilt, stigma, and shame, which may in turn encourage earlier support seeking and recovery.

Genetic Counseling in Middle School Science Club: A Pilot Study.

Compared to demographic data from other healthcare professions, genetic counselors (GCs) are more likely to be Caucasian females. Many current underrepresented in genetic counseling (URGC) professionals in the field found genetic counseling later in their careers due in part to their lack of awareness. A pilot study consisting of equal numbers of male and female sixth grade science club students was conducted to explore the impact that direct teaching might have on students' awareness of and interest in genetic counseling. The analysis used the non-parametric Wilcoxon signed rank test due to the ordinal, Likert-scale data. Results derived from a pre- and post-survey of lesson participants indicated a statistically significant increase in students' perceptions of having a role model in a science career. Efforts to reach local middle school students to highlight genetic counseling as a potential career choice, especially by role models, may add to the continued work being done to increase the diversity of future genetic counseling applicant pools.

Undergraduate Student Perceptions and Awareness of Genetic Counseling.

Genetic counseling is a rapidly expanding field, and the supply of certified genetic counselors is currently unable to keep up with job demand. Research is fairly limited regarding the awareness and perceptions that prospective genetic counseling students have on the field and what factors most influence their interest. The current study includes data collected from 1389 undergraduate students in the sciences at 23 universities across the United States who were surveyed regarding information related to their awareness, perceptions, knowledge, and interest in genetic counseling. The majority of participants had heard of genetic counseling (78.0%), many from a high school course (37.3%), college course (28.1%), or online (11.5%). Familiarity was associated with factors such as female gender (p = 0.003) and length of time in school (p < 0.001). After taking the survey, participant interest was positively associated with several factors including female gender (p <0.001) and Asian and Hispanic ethnicity (p = 0.012). Factors commonly reported as attractive about the field included direct patient care, the variety of roles available, cultural competency and psychosocial training, and helping others. Discussion elaborates upon specific factors related to student awareness and interest in genetic counseling and potential ways to tailor recruitment strategies for maximum benefit to the field.

Making pretest genomic counseling optional: lessons from the RAVE study

Making pretest genomic counseling optional: lessons from the RAVE study

Parkinson's Disease: Patients' Knowledge, Attitudes, and Interest in Genetic Counseling.

The objective of this study was to assess the genetics knowledge of patients with Parkinson's disease (PD), and to explore their attitudes on genetic testing and interest in genetic counseling. We surveyed 158 patients from the University of Maryland Parkinson's Disease and Movement Disorders Center. Patients averaged a score of 63% on general genetics knowledge and 73% on PD genetics knowledge. Participants had an overall positive attitude toward genetic testing: 80% believed that the use of genetic tests among people should be promoted, and 83% would undertake genetic test for PD if it was available. Patients reported a high interest to discuss the benefits, risks, and impacts of genetic testing for PD (mean sum score = 26, range = 9-35), and 43% patients expressed interest in meeting with a genetic counselor. Multivariate regression analysis showed that patients who had more positive attitudes toward genetic testing for PD were more interested in meeting with a genetic counselor (β = 0.6, p < 0.001). This study is the first to demonstrate an interest in genetic counseling among patients with PD. Our findings demonstrate a new niche for genetic counselors to support patients in clarifying gaps or misconceptions in knowledge about PD genetics as well as the possible risks, benefits, and limitations of genetic testing.

The Efficacy of Genetic Counseling for Psychiatric Disorders: a Meta-Analysis.

Psychiatric illnesses are complex, highly heritable disorders that have substantial implications for both affected individuals and their families. Though genetic testing is currently limited in its clinical usefulness in this area, interest in genetic counseling for psychiatric disorders has a relatively long history and many positive outcomes have been posited. Yet, empirical studies of genetic counseling outcomes have been emerging only more recently. The aim of the current meta-analysis was to analyze the efficacy of genetic counseling and explore potential moderators of its effect. An extensive electronic search was conducted investigating the literature published until July 2016. The initial search resulted in 2367 articles, four of which met the inclusion criteria and were included in the quantitative meta-analysis. Effect size parameters and sample sizes for all variables in each study were included. The efficacy has ben demonstrated both at post-intervention and at follow up, with an overall statistically significant effect size of moderate intensity. Implications of this study are discussed in detail.

What about the guys? An assessment of gender differences in hereditary colorectal cancer testing.

537 Background: Approximately 5-10% of colorectal cancer (CRC) is due to hereditary causes. Identification of an inherited cause may impact surgical and treatment decisions for CRC patients and may identify increased risks for other cancers that warrant increased screening and/or risk reduction measures. Men have testing for hereditary breast and ovarian cancer less often than women, even though these genes may also cause increased risk for cancer in men and men are as likely as women to carry mutations in these genes and pass them onto their children. We aimed to explore whether similar gender differences exist related to testing for hereditary CRC. Methods: We retrospectively reviewed clinical data and test results from consecutive CRC cases, who had a multi-gene panel with 13-49 genes at our laboratory, between March 2012 and June 2016. Statistical comparisons between males and females were conducted using Fisher’s exact test. Results: Of CRC cases (n = 7142), 61.1% were female and 12.8% were positive for mutation or likely pathogenic variant. Average age of CRC onset for men was 47.2, and for women was 49.5. Women with CRC before age 20 had the highest mutation rate (31.8%), but men were more likely to test positive than women overall (14.1% vs 12.0%, p = 1.1e-2). Mutations were most frequent in the same three genes for both men and women, but in different orders: MLH1, CHEK2, and MSH2 for males and CHEK2, MSH2, and MLH1 for females. The only genes with significant differences in mutation rates between men and women were MLH1 (3.2% vs 1.5%, p = 2.0e-6) and MSH6(1.7% vs 0.8%, p = 3.0e-3). Conclusions: Hereditary CRC is expected to affect men and women equally. In our cohort, however, the majority of individuals tested were women, while men were more likely to test positive. Possible explanations include smaller sample size and earlier age of onset in men, perceptions of referring clinicians, and different levels of interest in genetic counseling and testing between male and female patients. These data highlight an important opportunity for educating and identifying more men with hereditary CRC who may benefit from genetic information. Further studies are needed to confirm these results and explore reasons for the differences.

Student-Athletes' Views on APOE Genotyping for Increased Risk of Poor Recovery after a Traumatic Brain Injury.

Use of apolipoprotein E genotyping to personalize the risk of a poor recovery after traumatic brain injury is complicated by the potential for genetic discrimination and the potential to reveal an increased risk for late onset Alzheimer's disease. We developed a survey to gauge interest in testing among athletes participating in National Collegiate Athletic Association programs. Eight hundred and forty seven student-athletes were surveyed to determine their interest in genetic testing, their willingness to share the results of testing with parents, coaches and physicians, their concerns about privacy and/or discrimination, and their interest in genetic counseling. Nearly three quarters of respondents expressed some level of interest in testing, with the largest number describing themselves as 'possibly interested' (54.9%, n=463) and a smaller number describing themselves as 'very interested' (18.9%, n=159). Most student-athletes said that receiving secondary information about their risk for late-onset Alzheimer's disease made them more likely to test (50.6%, n=426) rather than less likely to test (12.4%, n=104). Student-athletes were open to apolipoprotein E genotyping and willing to share test results with their parents, coaches and physicians. They did not anticipate that test results would impact their behavior or ability to play. Testing programs may be welcome but should provide clear information as to risks and benefits.

A pilot randomized clinical trial evaluating the impact of genetic counseling for serious mental illnesses.

The serious mental illnesses schizophrenia, schizoaffective disorder, and bipolar disorder are complex conditions affecting 1% to 4% of the population. Individuals with serious mental illnesses express interest in genetic counseling, an intervention showing promise for increasing patient knowledge and adaptation. This trial aimed to evaluate the effects of genetic counseling for people with serious mental illnesses as compared to an educational intervention or wait list. A pilot 3-arm (each n = 40; genetic counseling, a control intervention involving an educational booklet, or wait list), parallel-group, randomized clinical trial was conducted from September 2008 through November 2011 in Vancouver, Canada. Participants with schizophrenia, bipolar disorder, or schizoaffective disorder (DSM-IV) completed outcome measures assessing knowledge, risk perception, internalized stigma, and perceived control over illness at baseline and 1-month follow-up. The Brief Symptom Inventory was administered to control for current symptoms. Analyses included linear mixed-effects models and χ(2) tests. Knowledge increased for genetic counseling/educational booklet compared to wait list at follow-up (LRT1 = 19.33, Holm-adjusted P = .0003, R(2)LMM(m) = 0.17). Risk perception accuracy increased at follow-up for genetic counseling compared to wait list (Yates continuity corrected χ(2)1 = 9.1, Bonferroni P = .003) and educational booklet (Yates continuity corrected χ(2)1 = 8.2, Bonferroni P = .004). There were no significant differences between groups for stigma or perceived control scores. Genetic counseling and the educational booklet improved knowledge, and genetic counseling, but not the educational booklet, improved risk perception accuracy for this population. The impact of genetic counseling on internalized stigma and perceived control is worth further investigation. Genetic counseling should be considered for patients with serious mental illnesses. ClinicalTrials.gov identifier: NCT00713804.

Problems and their solutions in genetic counseling education in Japan.

With the expansion of novel chromosome testing, a career as a certified genetic counselor has been gathering a lot of attention. However, few people certified as a genetic counselor after completing postgraduate courses are able to find employment as a genetic counselor, and their salaries are quite low. It is also questionable whether or not such newly graduated genetic counselors, who have limited life experience and knowledge, can fully understand family issues and properly perform counseling sessions. To address these issues, a wide range of education and training may be necessary. In this study, we examined current problems in genetic counseling education in Japan, and proposed effective measures to address these problems. Toward creating a new society, we are currently establishing a national qualification system and cultivating qualified professionals capable of providing patients with accurate information on chromosome and genetic testing. In addition, these professionals could encourage younger generations to have an interest in genetic counseling. I also hope that these professionals will work not only in Japan but all over the world.

Where are the Males? Gender Differences in Undergraduates’ Interest in and Perceptions of the Genetic Counseling Profession

Genetic counseling is a female-dominated field, with women comprising about 95% of the profession (Smith et al. 2009). Greater patient choice and satisfaction may be achieved by increasing the number of male counselors, but empirical evidence about the reasons for this gender imbalance is limited. In this study 190 undergraduates (110 females, 79 males, 1 unknown) in upper division bioscience courses completed a survey assessing their knowledge and perceptions of and interest in genetic counseling as a career. There were only two significant gender differences. Females indicated significantly greater interest than males in pursuing a genetic counseling career, and they rated interpersonal skills as more integral to genetic counseling than males. Multiple regression analyses of knowledge and perceptions as possible predictors of male and female interest in pursuing a genetic counseling career yielded no significant predictors of male interest. For females, there were four significant predictors: estimated salary, career characteristics, perceptions of genetic counseling as interpersonally focused, and whether they had already chosen a career. Implications for recruiting males to the profession, and research recommendations are presented.

Learning of your parent's BRCA mutation during adolescence or early adulthood: a study of offspring experiences

To examine the experience, comprehension and perceptions of learning of a parent's BRCA mutation during adolescence and early adulthood, and explore the impact on offspring's physical and psychosocial well-being. Semi-structured interviews were completed with 22 adult offspring who learned of their parent's BRCA mutation prior to age 25 years. Data were summarized using qualitative methods and response proportions. Offspring reports of the content shared varied; discussion of cancer risks and offspring genetic testing were described more frequently than risk modification strategies. The majority of offspring reported a good understanding of the information shared and no negative aspects for learning this information. Some offspring reported changing their health behaviors after learning of the familial mutation; many tobacco users stopped smoking. Offspring interest in genetic counseling surrounding parent disclosure and genetic testing during adulthood were high. Some offspring understand and respond adaptively to early communication of a genetic risk for cancer, and disclosure may foster improved health behaviors during adolescence and young adulthood. Further research is necessary to evaluate how offspring conceptualize and utilize genetic risk and to identify the biopsychosocial factors predictive of adaptive/maladaptive responses to early disclosure of hereditary risk for adult cancer.

Interest in Genetic Counseling and Testing for Adolescent Nicotine Addiction Susceptibility among a Sample of Adolescent Medicine Providers Attending a Scientific Conference on Adolescent Health

Purpose Preventing adolescents from smoking and becoming addicted to nicotine is an important public health issue. New research on the genetics of susceptibility to nicotine addition is emerging and may eventually help to identify adolescents at high risk. Over time, genetic counseling and testing for nicotine addiction susceptibility may become incorporated into tobacco control practice, and providers in primary care settings are likely to be at the forefront of these services. As such, it is important to understand the attitudes and practices of adolescent medicine providers toward tobacco control and genetic testing to anticipate better the needs and interests of these individuals and prepare for the future. This study describes adolescent medicine providers’ interest, and correlates of their interest, in genetic counseling and testing for nicotine addiction susceptibility among their adolescent patients—a test that is not yet clinically available. Methods Adolescent medicine providers attending a national scientific conference (N = 232) completed a survey about their patient tobacco control and other screening behaviors, perceptions of their patients’ attitudes and beliefs toward tobacco control, and their own attitudes and beliefs about smoking and genetics. Results Providers who engaged in more regular tobacco screening behaviors with their adolescent patients (odds ratio [OR] = 4.07, 95% confidence interval [CI] = 2.20, 7.751, p = .00) and those who were more optimistic that biobehavioral research would lead to significant improvements in adolescent smoking prevention and treatment (OR = 2.47, 95% CI = 1.40, 4.37, p = .00), were more interested in counseling and testing. Conclusions In the future, adolescent wellness visits may present an opportunity to offer genetic counseling and testing for nicotine addiction susceptibility. Implementation at the provider level may depend on tobacco screening behavior and research optimism. Educating providers about safe and effective adolescent tobacco control strategies incorporating genetics will be essential.

Brazil's Craniofacial Project: Genetic Evaluation and Counseling in the Reference Network for Craniofacial Treatment

This study is part of Brazil's Craniofacial Project, which is the first initiative for a national characterization of craniofacial healthcare in Brazil. Our main aim was to describe the status of clinical genetics in the Brazilian Reference Network for Craniofacial Treatment. All services (n = 29) listed in the Brazilian Reference Network for Craniofacial Treatment until October 2003 were contacted and invited to complete a questionnaire. Information regarding the general characteristics of the services, availability of genetic services, and genetic service providers was collected. The response rate was 86.2% (n = 25). Thirteen responding teams had clinical geneticists. Teams were predominantly located in the southeast region and affiliated with universities. Family interest in genetic counseling was reported by 95.7% (22/23) of the services. Although 80% of the responding services reported offering genetic counseling, only 45% (9/20) provided genetic counseling guided by clinical geneticists. Availability and access to genetic evaluation and counseling are still rudimentary in Brazil. Many services report family interest in genetic counseling, but there are few teams with clinical geneticists. Inclusion of this specialist on craniofacial teams is crucial to patient care. Development of standard guidelines for genetic evaluation of selected craniofacial anomalies and for local genetic counseling (e.g., for nonsyndromic cleft lip or palate) could be an alternative for improving current deficiencies in the system. Strengthening the degree of coordination and communication among craniofacial teams represents another important goal.

Prevalence of risk factors for hereditary breast cancer in a thousand breast cancer patients receiving adjuvant radiotherapy, interest in genetic counseling and results of DNA analysis

Purpose: To study the prevalence of risk factors for hereditary breast cancer in breast cancer patients receiving adjuvant radiotherapy at our department. To offer genetic counselling including DNA analysis to selected patients and to explore the interest for it. To study the rate of mutations and correlations with the risk factors.

Escaping Inertia: Helping Our Students Make Informed Career Choices

Research Article| November 01 1994 Escaping Inertia: Helping Our Students Make Informed Career Choices Robert Moss Robert Moss Search for other works by this author on: This Site PubMed Google Scholar The American Biology Teacher (1994) 56 (8): 465–467. https://doi.org/10.2307/4449890 Views Icon Views Article contents Figures & tables Video Audio Supplementary Data Peer Review Share Icon Share Twitter LinkedIn Tools Icon Tools Get Permissions Cite Icon Cite Search Site Citation Robert Moss; Escaping Inertia: Helping Our Students Make Informed Career Choices. The American Biology Teacher 1 November 1994; 56 (8): 465–467. doi: https://doi.org/10.2307/4449890 Download citation file: Ris (Zotero) Reference Manager EasyBib Bookends Mendeley Papers EndNote RefWorks BibTex toolbar search Search Dropdown Menu toolbar search search input Search input auto suggest filter your search All ContentThe American Biology Teacher Search This content is only available via PDF. Copyright 1994 National Association of Biology Teachers Article PDF first page preview Close Modal You do not currently have access to this content.

When to Refer to the Geneticist

WITH THE recent dramatic advances in medical genetics and the increased interest in genetic counseling, most physicians have lost sight of the fact that they have been involved with genetic evaluations in the private practice of medicine for many years. Essentially, all human beings have normal physical characteristics that have been developed as the result of the interaction between small contributions by multiple genes and the environment. These multiplegene or polygenic multifactorial inheritance patterns have always been noted by lay persons as well as physicians. Both groups expect short parents to produce short children and large parents to produce large children. We expect obese individuals to have family histories of obesity. Characteristics such as height, weight, head circumference, lean body mass, intelligence, and age of sexual maturation represent this polygenic endowment interacting with one's environment. The standards that we physicians use for normalcy are derived from studies of groups of