Form Of Counseling Research Articles

Uptake and radiological findings of screening cerebral magnetic resonance scans in patients with hereditary haemorrhagic telangiectasia.

Hereditary haemorrhagic telangiectasia (HHT) results in arteriovenous malformations (AVMs), most commonly in the lungs, liver and brain. Discussion of cerebral vascular malformations is an important element of patient management. The current study objectives were to examine uptake and results of screening cerebral magnetic resonance (MR) scans, excluding symptomatic patients requiring neurological investigations. The remaining non-symptomatic individuals received formal pretest counselling that differed according to family history. For the 603 patients with no neurological symptoms of concern, screening scan uptake was higher after publication of the ARUBA trial. Patients with a family history of cerebral haemorrhage were 4 to 14-fold more likely to have a screening scan than patients with no such family history. For patients without neurological symptoms suggesting cerebral AVMs, none of the 59 screening scans performed at our institution demonstrated a cerebral AVM. Four scans (6.8%) demonstrated small aneurysms. The most common abnormality was cerebral infarction (20/59, 33.9%), predominantly identified in patients with pulmonary AVMs. Of 29 pulmonary AVM patients with no previous history of clinical stroke, 16 (55.2%) had between one and five silent infarcts. For HHT patients with pulmonary AVMs, the most frequently affected sites were the cerebellum (40%) and thalamus (14.3%), and the age-adjusted odds ratio for an infarct was 21.6 (95% confidence intervals 3.7, 126), p = 0.001. We concluded that for cerebral screening programmes in HHT, the findings support informed patient choice incorporating understanding that cerebral AVMs are rare in non-symptomatic HHT patients, but that screening scans commonly detect silent cerebral infarction due to pulmonary AVMs.

Systematic Screening for Familial Leukemia Based on Somatic Genomic Profiling Results

The incidence of familial acute leukemias (AL) and myelodysplastic syndrome (MDS) in the adult population is not well characterized, though recent estimates report that up to 4% of newly diagnosed individuals have a familial syndrome. Recognizing these syndromes is critical to proper clinical management of patients with an inherited susceptibility, and for genetic screening of family members. Within our tertiary care academic institution, less than 1% of AL/MDS cases are referred to genetic counseling, presenting an opportunity for improvement in practice. With the integration of next generation sequencing into standard clinical practice, we recently initiated a bi-monthly meeting to review these sequencing results, with the intent to detect possible familial AL/MDS syndromes and increase appropriate genetic counseling referrals. Here, we describe the potential value of this approach, through a retrospective analysis of somatic genomic profiling results in AL/MDS patients. We performed a retrospective, single-center analysis of all patients who underwent somatic genomic profiling with FoundationOne Heme for AL and MDS between May 2015 and July 2018. Genomic alterations implicated in familial leukemias or familial cancers and included in the FoundationOne Heme panel were as follows: RUNX1, CEBPA, ETV6, GATA2, TERC/TERT, PAX5, CHEK2, and TP53. We recorded baseline characteristics including age, sex, and diagnosis. The presence of the suspected germline variant and up 6 other genomic alterations were recorded. We described whether a comprehensive family history, defined as whether a family history of bleeding tendency, low blood counts, or cancers, was documented for all patients. All patients with a positive family history had the malignancies and blood disorders reported. Finally, we observed if a genetic counseling referral was placed. A total of 108 patients underwent genomic profiling during the study period. Pathogenic variants implicated in familial AL/MDS or familial cancers were detected in 41 of those patients. The number of patients under the age of 50 was 7. Twenty-nine patients had a diagnosis of AML and 12 patients had MDS. Of the reported relevant pathogenic variants, TP53 was seen in 20 patients, RUNX1 in 14 patients, CEBPA in 4 patients, ETV6 in 4 patients, and GATA2 in 3 patients. There were 5 patients that had 2 pathogenic variants noted on their genetic testing. Among the patients with positive pathogenic variant, 22/41 had a comprehensive family history performed. Family history was positive for malignancy in 26/41 patients. Of those 26, 9 patients had a first degree relative with a history of hematologic malignancy including leukemia. Only 2 patients overall were referred to genetic counseling. In AL/MDS patients who underwent somatic genomic profiling at our institution, nearly half of patients with suspected germline variants for familial AML-MDS syndromes had either a family history of malignancy or development of their malignancy at an earlier age, warranting genetic counseling referral. There also is room to improve comprehensive family history collection. Beginning in March 2018, we initiated a bi-monthly meeting to review somatic genomic profiling results in AL/MDS patients with a licensed geneticist. If a suspected germline variant is discovered, we now issue a statement to the primary oncologist to clarify family history if needed, and recommend a referral for formal genetic counseling in the presence of a suggestive family history or on the basis of age. In future investigations, we plan to study how this changes the rate of genetic counseling referrals, and whether this results in an increase in the detection of familial AL/MDS or familial cancer syndromes among this patient group. DisclosuresAtallah:Abbvie: Consultancy; Pfizer: Consultancy; BMS: Consultancy; Jazz: Consultancy; Novartis: Consultancy.

Development of Breast Cancer Choices: a decision support tool for young women with breast cancer deciding whether to have genetic testing for BRCA1/2 mutations.

To develop a decision support tool for young women with breast cancer considering genetic testing for BRCA1/2 mutations soon after cancer diagnosis. A four-stage iterative development process was employed; stage 1, literature review exploring the availability and efficacy of empirically tested decision support tools; stage 2, in-depth interviews with 29 young women (< 50years) recently diagnosed with breast cancer, exploring information requirements and experiences of genetic testing decision making; stage 3, three focus groups (N= 21) exploring preferences for information presentation and prioritisation of content; stage 4, think-aloud interviews to refine the prototype (N= 16). Participants wanted information regarding the pros and cons of testing, the testing process and implications for their family, presented in a way that allowed them to choose the level of detail they required. They preferred the term 'altered gene', valued a medical word definition function and warnings before accessing sensitive information. Participants valued the decision support tool, the accessibility of the information and its clinical endorsement. The decision support tool has considerable clinical utility as an adjunct to genetic counselling or for use in busy oncology clinics where formal genetic counselling may be unavailable.

Gaps in Receipt of Clinically Indicated Genetic Counseling After Diagnosis of Breast Cancer.

Purpose Little is known about the extent to which genetic counseling is integrated into community practices for patients newly diagnosed with breast cancer. We examined the receipt of clinically indicated genetic counseling in these patients. Patients and Methods We surveyed 5,080 patients between the ages of 20 and 79 years, diagnosed from July 2013 to August 2015 with early-stage breast cancer and reported to the SEER registries of Georgia and Los Angeles County. Surveys were linked to SEER clinical data and genetic test results. The study sample (N = 1,711) comprised patients with indications for formal genetic risk evaluation. Results Overall, 47.4% did not get tested, 40.7% tested negative, 7.4% had a variant of uncertain significance only, and 4.5% had a pathogenic mutation. Three quarters (74.6%) received some form of genetic counseling (43.5%, formal counseling and 31.1%, physician-directed discussion). Virtually all tested patients (96.1%) reported some form of genetic discussion (62.2%, formal counseling and 33.9%, physician-directed discussion). However, only one half (50.6%) of those not tested received any discussion about genetics. Younger women were more likely to report some type of counseling, controlling for other factors: odds ratio, 4.5 (95% CI, 2.6 to 8.0); 1.9 (95% CI, 1.1 to 3.3); and 1.5 (95% CI, 1.0 to 2.3) for women younger than 50 years of age, 50 to 59 years of age, and 60 to 69 years of age versus those 70 years of age and older. Patients' assessments of the amount of information they received about whether to get tested were similarly high whether they were counseled by a genetics expert or by a physician only (80.8% v 79.4% stated information was just right, P = .59). Conclusion Less than one half (43.5%) of patients with clinical indications received formal genetic counseling. There is a large gap between mandates for timely pretest formal genetic counseling in higher-risk patients and the reality of practice today.

Factors Affecting the Referral Rate of the Hoarding Disorder at Primary Mental Health Care in Quebec.

Hoarding disorder (HD) places an important burden on people with HD, on their family members and society. In this paper we evaluate help-seeking in HD at primary mental health, measured in referral rate, together withits individual, environmental and structural correlates. We conducted an aggregate study by combining existing official data with our own survey data at the catchment area level. We found a mean annual referral rate of 1.58 (SD = 1.79) cases of HD in primary mental health facilities per 10,000 of adult population. The referrals rate correlated with socio-demographic characteristics of the catchment area, the availability of tools for clinical management of HD, and affiliation to a University Medical school. We also found that: (1) family members, neighbours, municipal workers and health professionals are the primary source of complaints for HD; (2) 72% of primary mental health facilities worked with HD in crisis situations, 52% expressed difficulties in obtaining the consent of people with HD for an intervention (3) health/social services professionals lack HD clinical management tools, training and formal collaboration with municipal (housing, building security, fire prevention) specialists. Improvement of the readiness of the health-system to deal with HD will improve help-seeking for formal medical counselling on the part of people with HD. We can improve this readiness by providing primary mental-health facilities with training, clinical management tools and by helping them to establish formal collaboration with municipalities and community organisations. University medical schools can take a leadership role and become centers catalysing the change in HD clinical management.

Peer support workers’ experiences of supporting women with postnatal depression: a constant comparative exploration

Objective: To explore the lived experiences of peer support workers (PSWs) during their intervention with mothers suffering from postnatal depression (PND).Background: Postnatal depression is a major public health concern affecting approximately 13% of women worldwide. There is evidence within recent literature that peer support may have a positive effect upon women suffering with PND.Methods: Written data from the PSW’s logbooks, interviews and supervisory sessions was collected and thematically analysed.Results: Data were analysed using a constant comparative method and four key themes emerged. These were: changing perspectives of the PSW, their personal self-analysis and recognition, concern about the abandonment of the women that they had been supporting and self-recovery from postnatal depression.Conclusion: Findings indicate that PSWs choose to offer support based upon their own experiences, rejecting formal counselling therapies. This study found that peer-designed interventions do appear to have some merit.

A Prospective Randomized Study Analyzing Preoperative Opioid Counseling in Pain Management After Carpal Tunnel Release Surgery

Prescription opioid misuse has become increasingly prevalent in the United States. Preoperative opioid counseling has been proposed to decrease opioid consumption after surgery. This study aimed to evaluate the effect of preoperative opioid counseling onpatients' pain experience and opioid consumption after carpal tunnel release (CTR) surgery. A prospective comparison of consecutive patients scheduled to undergo CTR surgery was conducted. Patients were randomized to receive either formal preoperative opioid counseling or no counseling. All operations were performed with the same mini-open CTR surgical technique, and the same number of opioids were prescribed after surgery. Daily opioid pill consumption, pain levels, and any adverse reactions were recorded. During the day of surgery and the first day following surgery, patients in the group with counseling reported significantly fewer prescribed opioid pills consumed compared with patients in the group without counseling, while experiencing no significant difference in pain level experience. In addition, patients in the group with counseling reported a significantly lower number of total pain pills consumed over the course of the study than the group without counseling. No major adverse reactions were noted in either group. Preoperative opioid counseling was found to result in a significant decrease in overall opioid consumption after surgery. Therapeutic II.

Committee Opinion No. 716 Summary: The Role of the Obstetrician-Gynecologist in the Early Detection of Epithelial Ovarian Cancer in Women at Average Risk.

Ovarian cancer is the second most common type of female reproductive cancer, and more women die from ovarian cancer than from cervical cancer and uterine cancer combined. Currently, there is no strategy for early detection of ovarian cancer that reduces ovarian cancer mortality. Taking a detailed personal and family history for breast, gynecologic, and colon cancer facilitates categorizing women based on their risk (average risk or high risk) of developing epithelial ovarian cancer. Women with a strong family history of ovarian, breast, or colon cancer may have hereditary breast and ovarian cancer syndrome (BRCA mutation) or hereditary nonpolyposis colorectal cancer (Lynch syndrome), and these women are at increased risk of developing ovarian cancer. Women with these conditions should be referred for formal genetic counseling to better assess their cancer risk, including their risk of ovarian cancer. If appropriate, these women may be offered additional testing for early detection of ovarian cancer. The use of transvaginal ultrasonography and tumor markers (such as cancer antigen 125), alone or in combination, for the early detection of ovarian cancer in average-risk women have not been proved to reduce mortality, and harms exist from invasive diagnostic testing (eg, surgery) resulting from false-positive test results. The patient and her obstetrician-gynecologist should maintain an appropriate level of suspicion when potentially relevant signs and symptoms of ovarian cancer are present.

Committee Opinion No. 716: The Role of the Obstetrician-Gynecologist in the Early Detection of Epithelial Ovarian Cancer in Women at Average Risk.

Ovarian cancer is the second most common type of female reproductive cancer, and more women die from ovarian cancer than from cervical cancer and uterine cancer combined. Currently, there is no strategy for early detection of ovarian cancer that reduces ovarian cancer mortality. Taking a detailed personal and family history for breast, gynecologic, and colon cancer facilitates categorizing women based on their risk (average risk or high risk) of developing epithelial ovarian cancer. Women with a strong family history of ovarian, breast, or colon cancer may have hereditary breast and ovarian cancer syndrome (BRCA mutation) or hereditary nonpolyposis colorectal cancer (Lynch syndrome), and these women are at increased risk of developing ovarian cancer. Women with these conditions should be referred for formal genetic counseling to better assess their cancer risk, including their risk of ovarian cancer. If appropriate, these women may be offered additional testing for early detection of ovarian cancer. The use of transvaginal ultrasonography and tumor markers (such as cancer antigen 125), alone or in combination, for the early detection of ovarian cancer in average-risk women have not been proved to reduce mortality, and harms exist from invasive diagnostic testing (eg, surgery) resulting from false-positive test results. The patient and her obstetrician-gynecologist should maintain an appropriate level of suspicion when potentially relevant signs and symptoms of ovarian cancer are present.

Unusual de novo Partial Trisomy 17p12p11.2 due to Unbalanced Insertion into 5p13.1 in a Severely Affected Boy.

Gain of copy numbers can be due to different chromosomal rearrangements such as direct or indirect duplications, translocations, small supernumerary marker chromosomes, or insertions. In a 3-year-old boy with dysmorphic features and developmental delay, chromosome analyses revealed a derivative chromosome 5. Microdissection and reverse fluorescence in situ hybridization identified the in 5p13.1 inserted part as 17p12-p11.2 material. Thus the patient suffered from a rare combination of genomic disorder, that is, Charcot-Marie-Tooth disease type 1A and Potocki-Lupski syndrome. Parental studies indicated that the abnormality was de novo in origin. As the question how this rearrangement arose cannot be answered conclusively, formal genetic counseling is warranted, which includes a discussion regarding the possibility of gonadal mosaicism. In conclusion, this case highlights that chromosome 17p is genetically relatively instable, and thus it can lead to rare chromosomal conditions.

Specimen origin, type and testing laboratory are linked to longer turnaround times for HIV viral load testing in Malawi.

BackgroundEfforts to reach UNAIDS’ treatment and viral suppression targets have increased demand for viral load (VL) testing and strained existing laboratory networks, affecting turnaround time. Longer VL turnaround times delay both initiation of formal adherence counseling and switches to second-line therapy for persons failing treatment and contribute to poorer health outcomes.MethodsWe utilized descriptive statistics and logistic regression to analyze VL testing data collected in Malawi between January 2013 and March 2016. The primary outcomes assessed were greater-than-median pretest phase turnaround time (days elapsed from specimen collection to receipt at the laboratory) and greater-than-median test phase turnaround time (days from receipt to testing).ResultsThe median number of days between specimen collection and testing increased 3-fold between 2013 (8 days, interquartile range (IQR) = 6–16) and 2015 (24, IQR = 13–39) (p<0.001). Multivariable analysis indicated that the odds of longer pretest phase turnaround time were significantly higher for specimen collection districts without laboratories capable of conducting viral load tests (adjusted odds ratio (aOR) = 5.16; 95% confidence interval (CI) = 5.04–5.27) as well as for Malawi’s Northern and Southern regions. Longer test phase turnaround time was significantly associated with use of dried blood spots instead of plasma (aOR = 2.30; 95% CI = 2.23–2.37) and for certain testing months and testing laboratories.ConclusionIncreased turnaround time for VL testing appeared to be driven in part by categorical factors specific to the phase of turnaround time assessed. Given the implications of longer turnaround time and the global effort to scale up VL testing, addressing these factors via increasing efficiencies, improving quality management systems and generally strengthening the VL spectrum should be considered essential components of controlling the HIV epidemic.

Successful integration of genetic counseling in a comprehensive childhood cancer survivorship clinic.

230 Background: Awareness of inherited genetic risk and cancer predisposition has markedly increased. Research has shown that germline mutations in known cancer predisposition genes are identified in ~8% of pediatric oncology patients. Patients diagnosed years ago did not meet with a Genetic counselor or undergo genetic testing. The annual comprehensive survivorship visit provides cancer survivors an opportunity to review personal and family history and receive Genetic counseling. Methods: Our group initiated a pilot project in our Childhood Cancer Survivorship clinic (CCSC) to assess the feasibility of introducing survivors to a Certified Genetic Counselor (CGC). Initially, a chart review of annual visits that took place over a 3-month period was performed. A record of documentation of family history and genetic counseling was made. During the pilot period, survivors and their families were given the option to meet with a CGC. The CGC prepared a pedigree and made specific written recommendations regarding the indication, if any, for genetic testing in the patient or family. Anonymous post-counseling surveys were mailed to the families to gauge their satisfaction. Results: Prior to the pilot, 38 survivors were seen for annual visits over a 3 month period. Chart review identified no formal genetic counseling. A note of a family history of cancer was made in 1 patient. During the 3 month implementation period, 50 survivors were seen for annual visits. Thirty-four ( ~70%) accepted the offer to see a CGC. Of the 16 that did not meet with a CGC, 3 had significant medical issues that required attention, 2 had Down syndrome and 2 had previous genetic counseling. The rest declined interest with no specific rationale. Very few (3) surveys were returned. All rated the experience highly. Conclusions: Our experience in a multi-disciplinary CCSC supports the feasibility of delivering CGC services to long-term survivors of cancer. A majority of survivors were interested in meeting with the CGC. Further development of this program will focus on educating survivors about cancer predisposition and increasing access to CGC services.

The future of Canadian counselling psychology: Doctoral students

Little is known about the overall characteristics and beliefs of Canadian counselling psychology doctoral students. An online survey was administered to 43 doctoral students across all Canadian counselling psychology programmes, representing an approximate 26% response rate. Results indicated that the average age of doctoral students in the sample was about 32 years and that the majority were women (about 77% in the sample). Additionally, findings can be taken to suggest that participants were satisfied with their choice of counselling psychology as a career. The doctoral students sampled primarily practised from an integrationist theoretical standpoint and spent very little of their practice time providing formal psychological assessment services or career counselling. Participants generally intervened through individual counselling or psychotherapy and were focused on disorder treatment rather than preventative or developmental services. Curriculum changes that should be considered from the results of this study pertain to the topics of assessment, career counselling, advocacy/media skills, professional identity development and prevention/developmental interventions. The results of this study can also be taken to predict characteristics of the next generation of Canadian counselling psychologists and the future practice of counselling psychology in Canada.

Postpartum intrauterine contraceptive device: Knowledge and factors affecting acceptance among pregnant/parturient women attending a large tertiary health center in Puducherry, India

Context: Intrauterine contraceptive device (IUCD) has been recommended for insertion within 10 min of placental delivery or within 48 h of delivery (postpartum IUCD [PPIUCD]) by the WHO. However, the acceptance across our country has been low. Aims: To determine the level of knowledge and the factors affecting it and the likely adoption of PPIUCD. Settings and Design: This cross-sectional study was carried out in the antenatal clinic and postnatal ward of a large tertiary care center in South India. Subjects and Methods: A total of 339 women were studied with the help of a validated structured pro forma. Proportions were expressed in percentage. Chi-square test was applied to compare proportions and univariate analysis for the factors affecting knowledge and likely acceptance. Results: Among the 339 women, 152 (44.8%) were aware of the method. Of the 152 women, 56 had a negative attitude about the method. Multiparity of the women was a significant factor affecting knowledge (χ2 = 8.068, P = 0.045). Women who were not exposed to formal health counseling were significantly associated with a lack of knowledge (χ2 = 23.332, P = 0.0001). Primiparity (χ2 = 14.683, P = 0.0001), husbands with skilled jobs (χ2 = 8.272, P = 0.0407), having shared information with their husband regarding the method (χ2 = 38.1, P

Knowledge and Attitude on Growth Monitoring and its Associated Factors among Mothers/Guardians of Children Less than Two Years in Areka Town, Southern Ethiopia, 2017

Introduction: Growth Monitoring is the process of following and assessing the growth rate of a child in comparison to a standard by, periodic, frequent anthropometric measurements. Only a few have been said and researched about the maternal knowledge and attitude towards growth monitoring and its associated factors in Ethiopia as well globally. Therefore, this study was conducted to fill the observed gap. Methods: Community based cross sectional study was conducted in Areka town, from June 2 to June 12, 2017 sample size was 369 (p=0.53) after correction and proportional sample size allocation is used to allocate the sample to the 4 Kebeles and Systematic random sampling was used to select households. Data was collected using semistructured questioners by interview and the obtained data was analysed using SPSS v.24.0 statistical software. Statistical significance was declared at P-value of 0.25 for bivariate and 0.05 for multivariable logistic regressions. Results: On this study 53% of mothers were found to have poor knowledge and 42.6% of mothers had poor attitude. This study also found educational status of mothers; occupational status and adequate counselling and education from health professionals are associated with knowledge on growth monitoring. Poor knowledge and adequate counselling and education from health professionals were significantly associated with attitude towards growth monitoring. Conclusion and Recommendation: Mothers have relatively good attitude than knowledge. Formal education, counselling and education from health professionals and a formal occupation had a positive impact on knowledge and attitude towards growth monitoring. The knowledge status of the mothers was found to be low.

INTER-INDIVIDUAL DIFFERENCES IN THE RESPONSES OF VO2MAX TO PHYSICAL ACTIVITY COUNSELLING

Low cardiorespiratory fitness (VO2max) is an important risk factor for diabetes, cardiovascular disease and some cancers, making lifestyle interventions especially relevant. There is purported to be substantial inter-individual differences in...

An Examination of Interactions between Hospice Health Care Providers and Adolescents with a Parent in Hospice.

Interviews conducted with adolescents living with a dying parent were examined to identify the type of interactions the adolescents had with members of a hospice healthcare team. Four types of interactions were identified: No Interactions, In-passing Interactions, Engaged Interactions, and Formal Interactions. Results indicated that most of the adolescents had no contact with the hospice healthcare team or interacted with providers only briefly. Some adolescents reported more engagement with one or more hospice healthcare team members, and a few received formal counseling services from the hospice healthcare team or outside provider. Overall, limited contact occurred because of logistics or because the teens perceived that hospice services were exclusively targeted to dying patients, not their families. Based on these findings, strategies to increase engagement between adolescents and hospice healthcare team are discussed.

Frequency of variants of uncertain significance in BRCA1 and BRCA2 in an Irish cohort.

e13006Background: Screening for germline BRCA1/2 mutations predisposing to hereditary breast ovarian cancer (HBOC) syndrome is complicated by the identification of genetic variants of uncertain significance (VUS). These are often rare missense variants, ranging from harmless polymorphisms to deleterious mutations. VUS’s are considered in pre- and post test counseling, and increasingly encountered due to the uptake of panel testing. We determined the frequency of VUS in an Irish HBOC cohort. Methods: The results of consecutive BRCA1/2 genetic analysis performed in the clinical cancer genetics departments of the Mater Private Hospital and the Mater Misericordiae University Hospital were correlated with personal and family history of cancer and age at diagnosis. Results: 519 individuals (501 females and 18 males) underwent formal genetic counseling and diagnostic BRCA1/2 screening between January 2011 and January 2016. Pathogenic mutations were identified in 57 (10.9%) of the individuals tested, 18 (3.4%) mu...

Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol

Next-generation sequencing in cancer research may reveal germline variants of clinical significance. We report patient preferences for return of results and the prevalence of incidental pathogenic germline variants (PGVs). Targeted exome sequencing of 202 genes was carried out in 1000 advanced cancers using tumor and normal DNA in a research laboratory. Pathogenic variants in 18 genes, recommended for return by The American College of Medical Genetics and Genomics, as well as PALB2, were considered actionable. Patient preferences of return of incidental germline results were collected. Return of results was initiated with genetic counseling and repeat CLIA testing. Of the 1000 patients who underwent sequencing, 43 had likely PGVs: APC (1), BRCA1 (11), BRCA2 (10), TP53 (10), MSH2 (1), MSH6 (4), PALB2 (2), PTEN (2), TSC2 (1), and RB1 (1). Twenty (47%) of 43 variants were previously known based on clinical genetic testing. Of the 1167 patients who consented for a germline testing protocol, 1157 (99%) desired to be informed of incidental results. Twenty-three previously unrecognized mutations identified in the research environment were confirmed with an orthogonal CLIA platform. All patients approached decided to proceed with formal genetic counseling; in all cases where formal genetic testing was carried out, the germline variant of concern validated with clinical genetic testing. In this series, 2.3% patients had previously unrecognized pathogenic germline mutations in 19 cancer-related genes. Thus, genomic sequencing must be accompanied by a plan for return of germline results, in partnership with genetic counseling.

Myths and Beliefs About Disabilities: Implications for Educators and Counselors

abstractThis study reviewed past and current literature in Africa south of the Sahara to assess the impact of formal education and Christianity on African traditional beliefs and myths in relation to disability. The review builds on previous studies on the impact of education and Christianity on African cultures. The study reviewed articles that were published before 1970 and after 2000, that are ethnographic in approach, that sampled people with disabilities and their parents as the main participants, and used anthropological theories for analysis. Findings reflect a continued positive and negative impact of traditional myths and beliefs on the contemporary social constructs of disability. However, slight changes in negative attitudes have been observed among parents of children with disabilities where education and counseling are offered immediately after the birth of a child with disabilities. This indicates that formal education is one way of de-mystifying, dispelling and challenging some negative cultural myths and beliefs that are entrenched in history. Therefore, any effective and empowering formal education or counseling program needs to be cognizant of the underlying social construct of disabilities in order to counter any discriminatory myths and beliefs that can perpetuate stereotypes and discrimination of people with disabilities--and encourage those that promote their well-being.