Knowledge Of Genetic Counseling Research Articles

Assessing the pharmacy students' knowledge of genetic counseling with genetic variants that are associated with inherited disease

Background and purposeTo assess pharmacy students' understanding of the importance of genetic counseling through a didactic lecture and active in-class learning exercise in a required pharmacogenomics course. Educational activity and settingDuring the second year, students are enrolled in a two-credit hour pharmacogenomics course which is taught by multiple faculty members from various disciplines. The pharmacy students were taught the clinical importance of genetic results and counseling patients on their individualized reports by a clinical laboratory geneticist and a clinical genetic counselor. After completion of the didactic portion of the class, students practiced genetic counseling skills through role playing with clinical cases involving genetic reports. Students' knowledge of clinical applications of pharmacogenomic data was assessed prior to and following the counseling experience. FindingsA paired sample t-test was chosen to analyze the data to determine if there was a difference in mean scores upon the completion of the lecture. There was a statistically significant mean difference between the total scores for the pretest (mean (M) = 37.89, SD = 6.66) and the total scores for the posttest (M = 48.33, SD = 5.24); t(140) = 17.53, P < .001, α = 0.05. The effect size for this analysis (d = 1.74) surpassed Cohen's determination for large effect (d = 0.8). SummaryThe genetic counseling lecture and activity increased the students' overall awareness of the importance of how sensitive genetic information is reported and delivered to patients.

Premarital screening and probabilities of genetic disease in premarital screening and probability of genetic diseases in couples preparing for marriage

Genetic diseases are known to be difficult and could not be avoided. The disease is obtained from mutations and changes in genetic traits that are passed on from one or both genes from parent to child. Genes carrying traits or diseases can be dominant and recessive, their location can be on the autosomal chromosome or sex chromosome X or Y. This study was conducted on premarital female respondents with defined inclusion criteria. Data were collected through a google form questionnaire. A total of 110 respondents with several parameters of genetic counseling. The result was obtained that all respondents have known that certain diseases can be inherited. However, from all respondents, it was found that they had low knowledge of genetic counseling and premarital screening. From the respondent's data, it was also found that only 17% of respondents knew the history of the disease of the prospective partner and their family. In this case, it can be said that respondents might be carry the sick gene which means the probability that their child will carry the same gene is 50% normal: 50% sick. By screening, it might be predicted that the couple will be able to find out the potential diseases that will be passed on to their offspring later. Latest 48% decided to cancel and 26% said they did not agree and stated to continue the plan of marriage. Lack of knowledge about risk of genetic disorders need education about premarital screening to increase this information and premarital screening to the public.

Novel pyrroline-5-carboxylate reductase 2 (PYCR2) mutation in an Iranian patient with hypomyelinating leukodystrophy: findings of molecular and in silico investigations

BackgroundHypomyelinating leukodystrophy (HLD) is a specific group of leukodystrophies and is characterized by progressive postnatal growth delay that represents a type of clinically overlapping but genetically heterogeneous diseases with autosomal recessive inheritance. Loss-of-function mutations in PYCR2 are one of the main causes of HLD type 10 (HLD10), which is identified by cerebral hypomyelination, inadequate growth, brain atrophy, and movement abnormality. This study aimed to investigate the molecular etiology of HLD10 disorder in an Iranian patient from a consanguineous marriage family.ResultsThe DNA samples were extracted from the patient, a 9-year-old girl, and her parents. Whole-exome sequencing was conducted for these samples and the results were eventually confirmed and segregated via Sanger sequencing. Our findings demonstrated a novel homozygous frameshift mutation in PYCR2 gene, c.135dup (NM_013328.4). The heterozygous state of this variant was confirmed in parents. Additionally, this mutation was predicted to exhibit damaging effects through protein sequence alteration.ConclusionsSuch findings are of importance for understanding the underlying pathogenicity mechanisms and for improving genetic counseling knowledge of HLD patients for families.

Introduction of the genetic counseling profession by teachers in BIPOC-majority high schools.

The field of genetic counseling is racially and ethnically (RE) homogenous, with 90% of genetic counselors identifying as white. As awareness of genetic counseling increases interest in the career, one proposed method to increase the profession's RE diversity is to introduce genetic counseling as a career option to Black, Indigenous, and people of color (BIPOC) students during high school. This study explores the knowledge, presentation, and perceptions of the genetic counseling profession by high school teachers at BIPOC-majority high schools in the United States (US). Science teachers working at public high schools in Massachusetts and New York where greater than 75% of the student body identifies as BIPOC were invited to participate in a survey and focus groups for this study. A total of 456 teachers participated in the survey and a total of seven teachers participated in two focus groups. The survey data revealed that most (91.8%) participating teachers presented genetic counseling, though BIPOC-identifying teachers were more likely to report never presenting genetic counseling than white-identifying teachers. In addition, teachers' knowledge of the genetic counseling career and frequency of presenting it were strongly associated, suggesting that increasing knowledge of genetic counseling among teachers, particularly those who are BIPOC-identifying, could lead to increased presentation to BIPOC students. Major themes that emerged through the focus groups included (1) teachers perceiving genetic counseling as novel and complex in comparison to other healthcare professions, (2) teachers sharing that multiple methods can and should be used when introducing genetic counseling to students, and (3) the notion that teachers could have an important role in introducing genetic counseling to their students. Considering findings from the survey and focus groups, recommendations from this study include increasing awareness of genetic counseling among BIPOC-identifying science teachers at BIPOC-majority high schools, gradually introducing genetic counseling topics to students beginning at a young age, and utilizing student-led teaching activities.

Predictors of premarital screening and genetic counseling knowledge and attitude among deaf and hard hearing females in Tabuk, Saudi Arabia.

According to Saudi Arabia's 2030 vision, research should be directed to prevention, early detection, and intervention to reduce all types of disability. The current study aimed to investigate the predictors of Premarital Screening and Genetic Counseling (PMSGC) knowledge and attitude among deaf and hard hearing females' in Tabuk, Saudi Arabia. Descriptive correlational design was conducted on a convenience sample of 67 deaf and hard hearing students from the Tabuk region. Data were collected by an electronic questionnaire elaborated to the participants using sign language. The results revealed that most participants had incorrect answers regarding most PMSGC questions. Around two-thirds (68.7%, 65.7%, and 71.6%) of them strongly agree that PMSGC is very important, compatible with Islamic principles, and prevents family social and psychological problems, respectively. Older, urban area residents and university-educated participants have significantly higher knowledge and attitude scores than their peers (t=2.239, 4.887, 4.790 & p<0.05), respectively. Multiple regression shows that age (b=0.302, t=-2.795, p=0.007), education (b=0.336, t=2.425, p=0.019), mothers' education (b=0.314, t=2.345, p=0.023), and monthly income (b=-0.337, t=-2.503, p=0.015), are significant predictors of PMSGC knowledge. Furthermore, age (b=0.659, t=4.024, p=0.000), residence (b=0.293, t=2.233, p=0.030), education (b=-0.395, t=3.028, p=0.004), and type of disability (b=-0.443, t=-3.763, p=0.000) are significant predictors of PMSGC attitude. Although most deaf and hard hearing females have incorrect knowledge regarding PMSGC, most have a positive attitude. The study concluded that participants' education, mothers' education, and monthly income are significant predictors of PMSGC knowledge. Moreover, age, residence, education, and type of disability were significant predictors of higher PMSGC attitudes.

Germline mutations in Black women with ovarian, fallopian tube and primary peritoneal carcinomas

Routine genetic testing for ovarian cancer and identification of germline mutations can help improve early detection of cancer as well as guide treatment. Knowledge of genetic counseling and referral rates for genetic testing has been lower for Black women, compared to Caucasian women. We aimed to describe the demographics and presence of germline mutations in Black women with ovarian, fallopian tube or peritoneal carcinoma at two large academic institutions.

Germline mutations in Black patients with ovarian, fallopian tube and primary peritoneal carcinomas

ObjectiveRoutine genetic testing for ovarian cancer and identification of germline mutations can help improve early detection of cancer as well as guide treatment. Knowledge of genetic counseling and referral rates for genetic testing has been lower for Black patients, compared to White patients. We aimed to describe the demographics and presence of germline mutations in Black individuals with ovarian, fallopian tube or peritoneal carcinoma at two large academic institutions. MethodsFifty-one Black patients with invasive epithelial ovarian, fallopian tube, or primary peritoneal carcinoma were identified via institutional tissue banks over a 20-year time-period. Germline DNA was sequenced using BROCA, a targeted capture and parallel sequencing assay that identified pathogenic germline mutations in ovarian carcinoma susceptibility genes. ResultsGermline mutations in ovarian cancer susceptibility genes were found in 25.5% of women, most commonly BRCA1 and BRCA2. This mutation frequency mirrors those previously described among predominantly White populations. Our data suggests there may be an advantage in survival among those with germline mutations, although this was not statistically significant. ConclusionsGiven similar frequencies of germline mutations between Black and White patients with ovarian cancer, we conclude that there are not major differences in the genetic predisposition to ovarian carcinoma. Equitable access to genomic advancements including germline and tumor sequencing would facilitate equal access to PARP inhibitors, the standard of care for patients with BRCA mutated advanced ovarian cancer.

Report of a case with partial trisomy 9 mosaicism

Trisomy 9 syndrome and other related abnormalities such as full or mosaic trisomy 9 are very rare human chromosomal disorders. The disorders cause early pregnancy loss or death within 20 days after the birth which is accompanied by complex birth defects. The case reported here is a 26-year-old female, identified with partial trisomy of chromosome 9 by Array comparative genomic hybridization -aCGH, but has a longer life than reported in the medical literature and can give birth. The patient did not have abnormal mental or motor problems; no morphological ultrasound abnormalities; curved thumb and scattered warts on the left hand; gave birth to a healthy son after three consecutive stillbirths. The report has shown diverse clinical manifestations of trisomy 9 mosaic abnormalities in humans, contributing to a rare data source of trisomy 9 mosaic cases. Since then, improve knowledge of genetic counseling for rare cases of trisomy 9 mosaicism, especially in genetic counseling of prenatal diagnosis.

Regional Differences in the Beliefs and Practices Among Adults with Sickle Cell Disease Regarding Reproductive Health and Family Planning: A Sub-Analysis

Background. Sickle cell disease (SCD) remains the most common genetic hematologic disorder, with a disproportionally high incidence and prevalence in African countries. It is associated with an increased risk of maternal and infant morbidity and mortality compared to the general population. As more young adults living with SCD reach healthier reproductive ages, it is imperative that there is open communication between providers and patients regarding reproductive health, maternal risks associated with childbirth, and the risk of having children who inherit SCD. It is also important that providers understand reproductive health knowledge and perceptions within this population and methods to improve family planning education. We performed a survey-based study aimed to quantify current knowledge and perceptions regarding reproductive health choices, family planning and genetic counseling-presented in another abstract-. Here we present a sub-analysis, aiming to quantify differences, based on the participants region, concerning reproductive health knowledge and perceptions amongst adults with SCD. Methodology. All study participants were at least 18 years old and have a SCD diagnosis. They were asked to complete an anonymous survey instrument consisting of 43 questions, administered using Qualtrics Survey Software. The survey was comprised of questions about participants' demographics, knowledge base and perceptions about reproductive health and genetic counseling. Participants were recruited using convenience sampling in two ways. The first was through reaching sickle cell patient groups online via social media through Facebook and Twitter. The second was at an adult SCD clinic where participants were invited to complete the survey in clinic or afterwards. 152 participants accessed the survey, and 105 that completed more than 90% of the survey were included in the primary analysis. Further analysis was done to compare data from 70 participants who did not migrate from their reported birth country. Comparison groups were generated using reported birth country and current location. Forty-seven participants from North American (U.S. and Canada) and 23 from African Countries (Nigeria, Zambia, Kenya, and South Africa) were included in this analysis. Results. Demographics: Among the 70 analyzed, 47 (67.1%) respondents were from North America (N.A.) and 23 (32.9%) were from African Countries (A.C). Knowledge: People from both N.A. and A.C. agreed that women with SCD were at higher risk of pregnancy complications (91.5% and 87%, respectively), and understood the chance of having a child with SCD if both parents have the trait (78.7% and 78.3%). Perception: Participants from N.A. reported receiving most of their information about family planning, partner screening, and reproductive health from healthcare providers more frequently than participants from A.C. (67% vs 39%). More participants from A.C, 21 (91.3%), agreed that having children in the future was important to them, while 21 (45%) of the participants from N.A agreed to this. Participants from A.C. and N.A. equally agreed that is it important to know if their partner has the sickle cell trait (SCT) (95.7% and 93.6%). However, more participants from A.C., 21 (91.3%), reported having any discussion with their partner about being screened for the SCT, versus 29 (61.8%) from N.A. Participants from N.A. and A.C. were equally knowledgeable about what a genetic counselor is (72% v. 70%, respectively), and utilized genetic counseling at low rates (37% v. 39.1%, respectively). Most participants reported that they do not know how to get in contact with a genetic counselor in their community, 31 (66%) from N.A. and 18 (78.3%) from A.C. Many have not been referred to a genetic counselor in the past by a healthcare provider, 39 (83%) from N.A. and 20 (87%) from A.C. Conclusion. Our study suggests that there are differences in reproductive health and genetic counseling knowledge and perceptions when comparing SCD participants living in two world regions. Independently of regional differences, many people with SCD appear to lack key reproductive health and genetic counseling knowledge and resources. We believe there is a need for improved communication between providers and patients in family planning education, as well as further studies to address access to reproductive health and genetic counseling resources. Disclosures Nunez: American Board of Genetic Counseling: Membership on an entity's Board of Directors or advisory committees; Foundation for Women and Girls with Blood Disorders: Membership on an entity's Board of Directors or advisory committees. De Castro:Novartis: Membership on an entity's Board of Directors or advisory committees; Global Blood Therapeutics: Membership on an entity's Board of Directors or advisory committees; Pfizer: Consultancy.

Beliefs and Practices Among Adults with Sickle Cell Disease Regarding Reproductive Health Decisions and Family Planning

Background. With improvements in early diagnosis and health care for those with sickle cell disease (SCD), many affected are living longer and having families of their own. Despite medical advancements in this field, pregnancy in this population is still associated with an increased risk for maternal and infant morbidity and mortality compared to the general population. Due to increased maternal risks associated with childbirth and the risk of having children who inherit the disease, communication between providers and patients regarding reproductive health is imperative. However, providers' understanding of reproductive health knowledge and perceptions within this population and methods to improve family planning education which can result in autonomous and informed decisions amongst adults with SCD is still limited. Our study aims to quantify current knowledge and perceptions in adults with SCD regarding reproductive health choices and genetic counseling. Methodology. Study participants had to be at least 18 years old and have a diagnosis of SCD. Participants were asked to complete an anonymous survey instrument consisting of 43 questions that was administered using Qualtrics Survey Software. The survey was comprised of questions about participants' demographics, knowledge base and perceptions about reproductive health and genetic counseling. Participants were recruited using convenience sampling in two ways: 1) through online social media via Facebook and Twitter sickle cell patient groups; 2) patients at an adult sickle cell clinic were invited to complete the survey in clinic or afterwards. A total of 152 participants accessed the survey, and of those, 105 that completed more than 90% of the survey, were used in the analysis. Results. Demographics: Participants were between 18-57 years of age, 85 females (81.0%), 19 males (18.1%), and 1 transgender (1.0%). Among 99 people who disclosed their place of birth, 49 (49.5%) were from North America (U.S. and Canada), 38 (38.4%) were from African countries, and 12 (12.1%) were from other parts of the world. Fifty-six (53.5%) reported having no children and 49 (46.7%) had a minimum of one child. Knowledge: Ninety-three (88.6%) agreed that women with SCD are at a higher risk of pregnancy complications and 82 (78.1%) understood the chance of having a child with SCD if both parents have the trait. However, one-third (33.3%) did not know that women with hemoglobin SS will always pass down the trait to their children, and 90 (85.7%) were unaware of contraceptive methods available that have been shown to reduce the risk of sickle cell crisis. Perception: Sixty-four (61.5%) participants agreed that having children in the future was very important to them. Majority, 96 (91.4%), also agree that they want to avoid having a child with SCD. Fifty-eight (55.2%) indicated they received a majority of their information about partner screening, and reproductive health from a healthcare provider while 47 (44.8%) reported receiving most of their information from other sources (school, family members, friends, and independent research). Fifty-nine (59.6%) out of the 89 participants who responded agreed that they wished they had more conversations about partner screening and reproductive health with their hematologist. Seventy-five (72.1%) respondents reported that they know what a genetic counselor is and 40 (39.2%) reported having formal genetic counseling in the past. Among those who know what a genetic counselor was, only 30 (40.0%) actually knew how to get in contact with a genetic counselor in their community. Of those that have had formal genetic counseling in the past 15 (37.5%) reported having formal genetic counseling by a genetic counselor, while 25 (62.5%) had some form of counseling by another healthcare provider (i.e. hematologist, gynecologist, PCP, other); and 24 (60%) had one child or more. Conclusion. Our study suggests that many individuals with SCD may still lack important reproductive health and genetic counseling knowledge and resources. We believe that improved communication between healthcare providers and SCD patients is wanted and needed by this population to prevent pregnancy-related complications and improve outcomes. Future studies should focus on genetic counseling access, and reproductive health and family planning education to promote ongoing discussions and increase knowledge of both providers and individuals with SCD. Disclosures Nunez: American Board of Genetic Counseling: Membership on an entity's Board of Directors or advisory committees; Foundation for Women and Girls with Blood Disorders: Membership on an entity's Board of Directors or advisory committees. De Castro:Global Blood Therapeutics: Membership on an entity's Board of Directors or advisory committees; Novartis: Membership on an entity's Board of Directors or advisory committees; Pfizer: Consultancy.

Integrating genetic counseling and testing in the pediatric oncology setting: Parental attitudes and influencing factors.

Cancer predisposition syndromes (CPS) are caused by germline pathogenic variants that put an individual at increased risk of developing cancer throughout their lifetime. It is estimated that approximately 10-15% of children with cancer have an underlying CPS. Although research has investigated the clinical utility of genetic testing for children diagnosed with cancer, this study aimed to gain a deeper understanding of parental attitudes toward genetic testing in this population. Attitudes toward genetic counseling and testing among parents of children diagnosed with cancer were solicited through questionnaires distributed to a pediatric cancer clinic and online support groups. Quantitative data were analyzed using descriptive statistics and chi-square tests for association. The majority of participants had prior knowledge of genetic counseling (64.3%), yet most were not offered genetic counseling (59.5%). Fifty percent of parents reported interest in pursuing genetic counseling/testing and 31.0% reported uncertainty. Statistically significant associations were identified between interest in genetic counseling/testing and the child's age at diagnosis, child's sex, and participant annual income (P<.05). Parents of children diagnosed with cancer generally expressed interest in genetic counseling/testing; however, notable uncertainty was also reported. In light of this uncertainty, genetic counselors have an ideal skill set to engage families in their decision-making process as they weigh the benefits and drawbacks to pursuing genetic testing among this population. Demonstrated parental receptiveness to genomic technologies supports expansion of genetics providers in pediatric oncology care.

Assessment of Sexual Reproductive Health Knowledge Amongst Patients with Cystic Fibrosis

This study is concerned with evaluating cystic fibrosis (CF) annual review practice. More precisely, we wanted to know if we are utilizing genetic counseling services and identifying poor knowledge of sexual reproductive health at annual review. We conducted short interviews with 21 CF patients at annual review regarding genetic counseling knowledge and perception. Patient responses were documented, analyzed and coded using a simple thematic analysis to precis the content. Immediately post-interview, patients were asked to complete a CF questionnaire comprised of nine questions, testing knowledge of the science of Mendelian genetics, contraceptive needs and fertility. Knowledge was then compared to responses documented at annual review. Emerging themes from interviews included: poor knowledge and a need for more information regarding what genetic counseling involves, a positive perception and experience of genetic counseling for those who had attended, and partner anxiety related to carrier testing. The percentage of patients who reported they were aware of the CF fertility and genetic issues was 95%, however, questionnaire scores ranged from 0 to 9/9 (mean 4.8 SD [2.2]). 57% of patients had received genetic counseling. These patients had a statistically significantly higher score 6.2 (1.5) versus those who had not 2.9 (1.3) p < 0.001. The All Wales Adult CF Centre annual review practice is insufficient to identify patients who may benefit from further education on reproductive health. Traditionally these domains have been granted less significance. However, as life expectancy, quality of life and reproductive assistive techniques improve, ensuring appropriate patient knowledge is of greater importance.

The interest and knowledge of genetic counseling and genetic testing for hereditary breast cancer in a community hospital

The interest and knowledge of genetic counseling and genetic testing for hereditary breast cancer in a community hospital

Premarital screening and genetic counseling program: Studies from an endogamous population

Background:Studies in Arab countries have shown a significant lack of knowledge of Premarital Screening and Genetic Counseling (PMSGC) Program. PMSGC can identify and modify, through prevention and management, some behavioral, medical, and other health risk factors known to impact pregnancy outcomes.Objective:The aim of this study was to explore the knowledge, attitudes, and practice of Qatari's toward the premarital screening program and shedding more light on a complex matter.Materials and Methods:A cross-sectional study based on Hospitals and Primary Health Care Centers. A total sample of 1246 participants was surveyed, and 873 participants (70.0%) expressed their consent to participate in the study during January 2013–May 2014. The questionnaire based on sociodemographic data and for responses, on the PMSGC program knowledge, attitude, and practice statements. In addition, questions were asked regarding the services, activities, and how to attract and motivate the PMSGC program.Results:The mean age and standard deviation (SD) of the males' age were 30.4 ± 6.50 and the mean and SD of females' age were 31.08 ± 5.98. There were statistically significant differences between males and females with regard to age, educational status, occupation status, household income, consanguinity, body mass index, cigarette smoking, and Shisha smoking. There were no any statistically significant differences between males and females regarding sickle cell anemia and thalassemia, glucose-6-phosphate dehydrogenase deficiency cystic fibrosis, homocystinuria, HIV, and hepatitis. The response to the ''Why proceeding through high-risk marriage?'' by gender, males and females responded statistically significant differences (P = 0.019). The step-wise multivariate regression analyses as predictors for knowledge of PMSGC program revealed that age, educational level, the lack knowledge of genetics counseling, parental interventions for cousin marriage decision, positive test results affect and change marriage decision, religious impact, household income, consanguinity, hereditary diseases knowledge, occupational status, and love factors were considered as the main factors associated with the premarriage screening and genetics counseling after adjusting for age, gender, and other variables.Conclusion:The current study revealed that knowledge and attitude regarding PMSGC program were low in population. Motivation, enforcement, and implementation of program at the school and university educational campaigns are vital. Improved counseling and adding new topics for counseling on genetic, chronic, and mental illness; building healthy families; and reproduction and fertility are considered to be top priorities in community.

Knowledge of Genetic Counseling Among Patients With Breast Cancer and Their Relatives at a Nigerian Teaching Hospital.

Breast cancer prevalence continues to increase globally, and a significant proportion of the disease has been linked to genetic susceptibility. As we enter the era of precision medicine, genetics knowledge and skills are increasingly essential for achieving optimal cancer prevention and care. However, in Nigeria, patients with breast cancer and their relatives are less knowledgeable about genetic susceptibility to chronic diseases. This pilot study collected qualitative data during in-depth interviews with 21 participants. Of these, 19 participants were patients with breast cancer and two were relatives of patients with breast cancer. Participants were asked questions regarding their knowledge of breast cancer, views on heredity and breast cancer, and views on genetic counseling. Participants’ family histories were used as a basis with which to assess their hereditary risk of breast cancer. Participant responses were audio recorded and transcribed manually. The study evaluated patients’ and relatives’ knowledge of genetic counseling and the use of family history for the assessment of familial risk of breast cancer. This will serve as a guide to the processes of establishing a cancer risk assessment clinic.

Young adult daughters of BRCA1/2 positive mothers: What do they know about hereditary cancer and how much do they worry?

The objectives of this study are to determine (i) what daughters, ages 18-24 years, of BRCA1/2 mutation carriers understand about their 50% chance of carrying a BRCA1/2 mutation and about risk reduction or management options for mutation carriers, (ii) the extent and nature of daughters' cancer-related distress, and (iii) the effects of knowing mother's mutation status on daughters' future plans. A total of 40 daughters, currently aged 18-24 years, of mothers who tested positive for a mutation in BRCA1/2 were invited by mail to participate (with contact information supplied by their mothers). Daughters participated in a qualitative telephone interview about the impact of learning their mother's mutation status on their understanding of their own cancer risks and their cancer-related distress, and their knowledge of screening strategies, risk-reducing surgery, current health status, and future plans. Participants also completed study-specific demographic and family history questionnaires, the Brief Symptom Inventory-18, Impact of Event Scale (with hereditary predisposition to breast/ovarian cancer as the event), and the Breast Cancer Genetic Counseling Knowledge Questionnaire. Daughters' genetic knowledge is suboptimal; gaps and misconceptions were common. Over 1/3 of the daughters reported high cancer-related distress, despite normal levels of general distress. Disclosed genetic information raised future concerns, especially regarding childbearing. Targeted professional attention to this high-risk cohort of young women is critical to inform the next generation of daughters of BRCA1/2 mutation carriers and encourage recommended screening by age 25 years. Improved uptake of screening and risk reduction options could improve survival, and psychoeducation could reduce cancer-related distress.

Adéquation de la perception du risque de prédisposition génétique BRCA1/2 chez des femmes atteintes de cancer du sein (cas index) et facteurs associés

This study aims to determine accuracy between perceived risk of genetic predisposition and objective estimation of this risk, and its associated factors in women, probands affected with breast cancer. Perception of this risk, absolute and comparative, was confronted with objective estimation. Emotional distress and knowledge postcounseling were measured, respectively by the Hospital Anxiety and Depression Scale (HADS), Impact of Event Scale (IES) and the Breast Genetic Counseling Knowledge Questionnaire (BGKQ). On 213 eligible consultants, the 173 questionnaires (81.2%) analyzed revealed an inaccuracy of perception of absolute and comparative risks in 50 and 55.3%, respectively. An unsignificant tendency to overestimate the absolute risk (p=0,08) and a significant underestimation of comparative risk (p<0.001) appear. The inaccuracy of the perception of absolute risk is associated with greater distress (β=0.150) and a lower educational level (β=-0.164), while the comparative risk is associated with higher knowledge (β=0.208), higher level of education (β=0.176) and a younger age (β=-0.151). Living in couple is a factor of inaccuracy of both form of risk assessment (β=0.189, β=0.147). While the adequacy of the perceived risk of carrying a mutation in a BRCA1 /2 should promote an informed decision about genetic testing and anticipation of its outcome, a large number of consultants does not apprehend this risk correctly when they have emotional distress and despite knowledge of the risk of breast cancer.

High School Biology/Life Science Teachers’ Presentation of Genetic Counseling and Health Care Career Options in Their Classrooms

Studies show teachers play an influential role in the career decision-making process of students and early knowledge of genetic counseling (GC) increases the likelihood students will consider this career option. This quantitative study is the first to explore the presentation of GC and other health care career options by high school (HS) biology/life science (B/LS) teachers in their classrooms. Our findings indicate most B/LS teachers present GC as a career option to HS students, agree it complements classroom activities, and perceive students as interested in learning about the profession. However, teachers note many barriers to spending class time presenting GC careers. Consequently, a substantial number of teachers spent a minimal amount of time presenting health care careers in general. We discuss ways genetic counselors can enhance career resources, reduce barriers, and foster student interest in pursuing a career in GC by developing partnerships with HS B/LS teachers.

Consideration of Genetic Counseling as a Career: Implications for Diversifying the Genetic Counseling Field

Under-representation of racial/ethnic minority counselors has been an ongoing issue in the genetic counseling field. A better understanding of genetic counseling awareness and career consideration may help to increase the number of applicants to genetic counseling training programs from racial/ethnic minorities. This study sampled high school and college students (n = 233) to examine their awareness and perceptions of genetic counseling. Ethnicity, gender, parental level of education, and interest in biology were significant predictors of a subject's genetic counseling awareness; previous awareness of genetic counseling, interest in psychology, and level of education were significant predictors of whether a subject would consider genetic counseling as a career. The findings suggest that knowledge of genetic counseling is lower among racial/ethnic minorities, but that racial/ethnic minorities are just as likely to consider genetic counseling as a career. Awareness of genetic counseling prior to university education may increase racial/ethnic minority representation among potential applicants to genetic counseling training programs.

Development and validation of a breast cancer genetic counseling knowledge questionnaire

Women who undergo genetic counseling concerning their increased risk of developing breast cancer confront large quantities of complex information in a short period of time. Clinical reports have suggested that many women may not retain what they learned during counseling. A validated questionnaire to measure their knowledge, however, is lacking. In this study, we describe the development and validation of a questionnaire to assess knowledge of information typically included in genetic counseling for breast cancer. Items were empirically derived from detailed content analyses of actual genetic counseling sessions. The instrument’s content validity was high, as evidenced by high levels of independent interrater agreement (0.93) on items. Subsequent data reduction and confirmatory factor analytic techniques yielded a highly reliable (alpha = 0.92) 27-item Breast Cancer Genetic Counseling Knowledge Questionnaire (BGKQ). Direct comparison of this questionnaire to a scale previously developed in the literature (BCHK; [Breast Cancer Res. Treat. 53 (1999) 69]) supported the utility of the new questionnaire for evaluation of knowledge after counseling. Compared to non-counseled groups ( n=45), women who had undergone genetic counseling ( n=28) scored significantly higher ( P<0.0001) on the BGKQ, but not on the other questionnaire, establishing the BGKQ’s criterion validity. The BGKQ may, thus, provide a useful clinical and research tool for assessing knowledge of information provided during genetic counseling and exploring the potential impact of distress on knowledge, as well as the impact of knowledge on screening behaviors.