Evaluating the impact of group cancer genetic counseling sessions in the BRCA Community Study

The Ashkenazi Jewish population has up to a 2.5% (1 in 40) carrier frequency for any of the three founder mutations in the BRCA1 and BRCA2 genes. The current standard of care suggests genetic testing for founder mutations in only those individuals with a personal or family history of BRCA-related cancers in addition to Ashkenazi Jewish ancestry; however, recent studies suggest that up to 51% of Ashkenazi Jewish BRCA mutation carriers have little or no family history of relevant cancers (Gabai-Kapara et al., 2014). Since there are currently no well-defined educational programs to address this problem, the purpose of this study was to design, implement, and evaluate the utilization of group genetic counseling and pre-counseling education among “low-risk” Ashkenazi Jewish individuals being offered genetic testing for BRCA founder mutations. Most participants showed a gain in knowledge after group genetic counseling, no negativity towards group genetic counseling, and a better understanding of BRCA mutations in the Ashkenazi Jewish population. The results of this study show that pre-counseling education can be effectively utilized in a group setting and that group genetic counseling can be utilized successfully for population screening

Survey of Italian pediatricians on awareness, experiences and beliefs regarding direct-to-consumer genetic testing in minors

Background: Our study wanted to assess Italian pediatricians’ awareness, experience and beliefs regarding directto- consumer (DTC) genetic tests (GT) in minors, with a focus on those for predisposition to complex disease, lyfestyle, athletic ability and other inborn talents. Methods: A 28-item questionnaire was administered through the SurveyMonkey® web platform to the 9,086 members of the Italian Society of Pediatrics for which a valid email address was available. The survey was opened from April through November 2017. Statistical analyses were performed using the Graphpad software package. Results: 36.2% of the 442 respondents were aware of DTC-GT, but only 23.1% of them felt adequately prepared to meet families’ information needs. The first three sources of knowledge were the Internet (20.98%), magazines/ newspapers (16.78%) and TV/Radio (14.33%), while companies’ direct marketing activity influenced knowledge only in 2.45% of the cases. Only 16.4% of the aware respondents had been already approached for advice. More than 95% of the pediatricians who were aware would not advise DTC-GT for lifestyle, athletic performance or other inborn skills. 69.2% was unfavourable to susceptibility tests for complex diseases. Most of them expressed an interest in learning more and indicated as preferred sources of information public policies issued by professional societies. Conclusion: The low awareness and experience and the vendors’ tiny contribution to knowledge suggest a still limited penetration of DTC-GT companies in Italy. A great interest in learning more was found. Scientific societies are best positioned to support health professionals in this educational goal thanks to their role of trusted sources of information and guidance

Meditsiinilist sekkumist vajavate geenivariantide leidmine Eesti Geenivaramu geenidoonoritel

Ameerika Meditsiinigeneetika ja Genoomika Kolleegium (ACMG) on koostanud 56 geeni miinimumnimekirja, mille alusel soovitatakse anda tagasisidet meditsiiniliselt oluliste geenivariantide kohta. Kuna Eesti Geenivaramu soovib anda haigusseoseliste geenivariantide kohta geenidoonoritele tagasisidet, oli käesoleva bakalaureusetöö eesmärgiks leida Eesti Geenivaramu geenidoonoritel ACMG nimekirja alusel teadaolevalt ja eeldatavalt patogeensed geenivariandid. Tulemusteks saadi vastavaid geenivariante 28, millest 10 olid teadaolevalt patogeensed. Kokku esines vastavaid geenivariante 41 isikul, kellest 16 isikul esines teadaolevalt või eeldatavalt patogeenne BRCA1 või BRCA2 geenivariant, mis võib põhjustada pärilikku rinna- või munasarjavähki. Saadud tulemused on esialgsed ning patogeensete geenivariantide otsimist jätkatakse

Knowledge, Attitudes, and Intentions Toward Fertility Awareness and Oocyte Cryopreservation Among Obstetrics and Gynecology Resident Physicians

STUDY QUESTION What knowledge, attitudes and intentions do US obstetrics and gynecology (OB/GYN) residents have toward discussing age-related fertility decline and oocyte cryopreservation with their patients? SUMMARY ANSWER Most OB/GYN residents believe that age-related fertility decline, but not oocyte cryopreservation, should be discussed during well-woman annual exams; furthermore, nearly half of residents overestimated the age at which female fertility markedly declines. WHAT IS KNOWN ALREADY Oocyte cryopreservation can be utilized to preserve fertility potential. Currently, no studies of US OB/GYN residents exist that question their knowledge, attitudes, and intentions toward discussing age-related fertility decline and oocyte cryopreservation with patients. STUDY DESIGN, SIZE, DURATION A cross-sectional online survey was conducted during the fall of 2014 among residents in American Council for Graduate (ACOG) Medical Education-approved OB/GYN residency programs. Program directors were emailed via the ACOG Council on Resident Education in Obstetrics and Gynecology server listing and asked to solicit resident participation. PARTICIPANTS/MATERIALS, SETTING, METHODS Participants included 238 residents evenly distributed between post-graduate years 1–4 with varied post-residency plans; 90% of residents were women and 75% were 26–30 years old. The survey was divided into three sections: demographics, fertility awareness, and attitudes toward discussing fertility preservation options with patients. Descriptive and inferential statistics were conducted. MAIN RESULTS AND THE ROLE OF CHANCE A strong majority of residents (83%) believed an OB/GYN should initiate discussions about age-related fertility decline with patients (mean patient age 31.8), and 73% percent believed these discussions should be part of an annual exam. One third of residents overestimated the age at which there is a slight decline in female fertility, while nearly half of residents overestimated the age at which female fertility markedly declines. Over three-quarters of residents (78.4%) also overestimated the likelihood of success using assisted reproductive treatments (ARTs). Residents were likely to support oocyte cryopreservation in cancer patients irrespective of the woman\u27s age, but much less likely to support elective oocyte cryopreservation. For elective oocyte cryopreservation, 40% believed OB/GYNs should initiate discussions with patients (mean age 31.1), while only 20% believed this topic should be part of an annual exam. LIMITATIONS, REASONS FOR CAUTION Because the study invitation was sent through US OB/GYN residency program directors rather than directly to residents, it is possible that some residents did not receive the invitation to participate. This limits the generalizability of the findings. WIDER IMPLICATIONS OF THE FINDINGS Within the USA, there appears to be a critical need for improved education on fertility decline in OB/GYN residency programs. To promote informed reproductive decision-making among patients, efforts should be made to help OB/GYNs provide comprehensive fertility education to all women, while also respecting patient choices

Survey of Italian Pediatricians on awareness, experiences and beliefs regarding direct-to-consumer genetic testing in minors

Background: Our study wanted to assess Italian pediatricians’ awareness, experience and beliefs regarding directto-consumer (DTC) genetic tests (GT) in minors, with a focus on those for predisposition to complex disease, lyfestyle, athletic ability and other inborn talents. Methods: A 28-item questionnaire was administered through the SurveyMonkey® web platform to the 9,086 members of the Italian Society of Pediatrics for which a valid email address was available. The survey was opened from April through November 2017. Statistical analyses were performed using the Graphpad software package. Results: 36.2% of the 442 respondents were aware of DTC-GT, but only 23.1% of them felt adequately prepared to meet families’ information needs. The first three sources of knowledge were the Internet (20.98%), magazines/ newspapers (16.78%) and TV/Radio (14.33%), while companies’ direct marketing activity influenced knowledge only in 2.45% of the cases. Only 16.4% of the aware respondents had been already approached for advice. More than 95% of the pediatricians who were aware would not advise DTC-GT for lifestyle, athletic performance or other inborn skills. 69.2% was unfavourable to susceptibility tests for complex diseases. Most of them expressed an interest in learning more and indicated as preferred sources of information public policies issued by professional societies. Conclusion: The low awareness and experience and the vendors’ tiny contribution to knowledge suggest a still limited penetration of DTC-GT companies in Italy. A great interest in learning more was found. Scientific societies are best positioned to support health professionals in this educational goal thanks to their role of trusted sources of information and guidance.&nbsp

Limitations and pitfalls of using family letters to communicate genetic risk: a qualitative study with patients and healthcare professionals

European genetic testing guidelines recommend that healthcare professionals (HCPs) discuss the familial implications of any test with a patient and offer written material to help them share the information with family members. Giving patients these “family letters” to alert any relatives of their risk has become part of standard practice and has gone relatively unquestioned over the years. Communication with at-risk relatives will become an increasingly pressing issue as mainstream and routine practice incorporates broad genome tests and as the number of findings potentially relevant to relatives increases. This study therefore explores problems around the use of family letters to communicate about genetic risk. We conducted 16 focus groups with 80 HCPs, and 35 interviews with patients, recruited from across the UK. Data were analyzed thematically and we constructed four themes: 1) HCPs writing family letters: how to write them and why?, 2) Patients’ issues with handing out family letters, 3) Dissemination becomes an uncontrolled form of communication, and 4) When the relative has the letter, is the patient’s and HCP’s duty discharged? We conclude by suggesting alternative and supplementary methods of communication, for example through digital tools, and propose that in comparison to communication by family letter, direct contact by HCPs might be a more appropriate and successful option

Discredited legacy: Stigma and familial amyloid polyneuropathy in Northwestern Portugal

Rationale Genetic inherited conditions may result in feelings of stigmatisation, mainly because of visible physical appearance and its transmissibility to offspring. Objective This article reports accounts of stigmatisation from Portuguese patients affected by the inherited neurodegenerative disease, familial amyloid polyneuropathy (FAP), living in the largest cluster of patients worldwide. Method We draw on semi-structured interviews conducted with individuals at-risk or affected by FAP, recruited through the national patients' association, about their experiences of stigmatisation related to the illness. Results Findings highlight the influence of a discrediting social context in the enactment of stigma. FAP was described as a source of devaluation and social distance and was permeated by beliefs of contagion in the community, especially in the past. The multigenerational nature of the illness within small communities was felt as a source of rejection for courtship and of devalued reproductive worth. Decisions to have (potentially affected) children seemed to be a target of implicit negative judgment. Dealing with stigma entailed restraint in talking about FAP especially outside the family, resistance to being treated as different, and social withdrawal. Some participants referred to recent substantial improvements in their social acceptance and a reduction in the intensity of the stigmatisation to which they are subject. Conclusion The pattern of stigma may have changed considerably within the past few decades, as medical information about the disease became more widespread, as new medications have been introduced and as clinical trials of other potential treatments have been established. Our findings report the social consequences of stigma towards this disease group and may help to understand how stigma is experienced in other heritable diseases