Accuracy of recall of information about a cancer-predisposing BRCA1/2 gene mutation among patients and relatives

This observational study aimed to (i) compare the accuracy of information recalled by patients and relatives following genetic counselling about a newly identified BRCA1/2 mutation, (ii) identify differences in accuracy of information about genetics and hereditary cancer and (iii) investigate whether accuracy among relatives improved when information was provided directly by genetics health professionals. Semistructured interviews following results from consultations with 10 breast/ovarian cancer patients and 22 relatives were audio-recorded and transcribed. Information provided by the genetics health professional was tracked through the families and coded for accuracy. Accuracy was analysed using the Wilcoxon Signed-Ranks test. Sources of information were tested using Spearman’s rank-order correlation coefficient. Fifty-three percent of the information recalled by patients was accurate. Accuracy of recall among relatives was significantly lower than that among patients (P=0.017). Both groups recalled a lower proportion of information about hereditary cancer than about genetics (P=0.005). Relatives who learnt the information from the patient alone recalled significantly less accurate information than those informed directly by genetics health professionals (P=0.001). Following genetic counselling about a BRCA1/2 mutation, accuracy of recall was low among patients and relatives, particularly about hereditary cancer. Multiple sources of information, including direct contact with genetics health professionals, may improve the accuracy of information among relatives

Определение скорости перемещения деформаций растяжений в массиве при подземной выемке угля

Приведена швидкість переміщення деформацій в непорушеному масиві. Встановлено, що швидкість в породах середнього ступеня метаморфізму складає 15 м/добу. Середня швидкість переміщення деформацій в сланцях – 10 м/добу, в піщаниках – 15 м/добу. При повторній підробці швидкість переміщення деформацій складає 17 м/добу.Deformation’s speed travel in the virgin rock massif is given in this article. It has been determined that deformation’s speed in the rocks of medium-scale metamorphism was 15 meters over the entire circadian period. The average speed of deformation’s travel in the shale rocks is 10 meters over the entire circadian period and in the sandstone is 15 meters over the entire circadian period. During the recurring undermining the speed travel of deformations is 17 meters over the entire circadian period

Why don't some men with banked sperm respond to letters about their stored samples?

Long-term storage of banked sperm, especially when it is not needed, for reproductive purposes, is costly and poses practical problems for sperm banks. For sperm banks to function efficiently, men must understand the implications of unnecessary storage, and make timely decisions about disposal of their own samples. Men who bank sperm prior to cancer treatment are routinely offered follow-up consultations to test their fertility, update consent and, where necessary, expedite referral for Assisted Conception. Yet sperm banks report that men do not respond to letters, suggesting samples are stored needlessly. We conducted semi-structured interviews with six men with a history of not responding to letters, to document reasons for non-response. Interviews were transcribed and analysed using Interpretive Phenomenological Analysis. Men's reasons for not responding are a complex interplay between past, present and future perspectives. In terms of their past, information is important on diagnosis, because men must understand that fertility can change after treatment. Present and future concerns focus on fears of being told fertility has not recovered and being pressured to dispose of banked sperm. The challenge is to devise invitation letters that address men's concerns while offering them tangible benefits and peace of mind

Acceptance and commitment therapy for people living with motor neuron disease: an uncontrolled feasibility study

Background Motor neuron disease (MND) is a fatal, progressive neurodegenerative disease that causes progressive weakening and wasting of limb, bulbar, thoracic and abdominal muscles. Clear evidence-based guidance on how psychological distress should be managed in people living with MND (plwMND) is lacking. Acceptance and Commitment Therapy (ACT) is a form of psychological therapy that may be particularly suitable for this population. However, to the authors' knowledge, no study to date has evaluated ACT for plwMND. Consequently, the primary aim of this uncontrolled feasibility study was to examine the feasibility and acceptability of ACT for improving the psychological health of plwMND. Methods PlwMND aged ≥ 18 years were recruited from 10 UK MND Care Centres/Clinics. Participants received up to 8 one-to-one ACT sessions, developed specifically for plwMND, plus usual care. Co-primary feasibility and acceptability outcomes were uptake (≥ 80% of the target sample [N = 28] recruited) and initial engagement with the intervention (≥ 70% completing ≥ 2 sessions). Secondary outcomes included measures of quality of life, anxiety, depression, disease-related functioning, health status and psychological flexibility in plwMND and quality of life and burden in caregivers. Outcomes were assessed at baseline and 6 months. Results Both a priori indicators of success were met: 29 plwMND (104%) were recruited and 76% (22/29) attended ≥ 2 sessions. Attrition at 6-months was higher than anticipated (8/29, 28%), but only two dropouts were due to lack of acceptability of the intervention. Acceptability was further supported by good satisfaction with therapy and session attendance. Data were possibly suggestive of small improvements in anxiety and psychological quality of life from baseline to 6 months in plwMND, despite a small but expected deterioration in disease-related functioning and health status. Conclusions There was good evidence of acceptability and feasibility. Limitations included the lack of a control group and small sample size, which complicate interpretation of findings. A fully powered RCT to evaluate the clinical and cost-effectiveness of ACT for plwMND is underway

Communicating BRCA1/2 genetic test results within the family: a qualitative analysis

Genetic testing for BRCA1/2 mutations associated with hereditary breast and ovarian cancer reveals significant risk information about one's chances of developing cancer. It is important to study communication processes in families where members are undergoing genetic testing because the information received is crucial not just to the individual concerned but also to other members of the biological family. This study investigates family communication of BRCA1/2 test results from both the informants’ and recipients’ perspectives. A total of 10 female patients and 22 of their relatives were interviewed. Patients’ and their relatives described feelings of responsibility for sharing genetic information within the family to enable others to reduce their risks of developing cancer. However, there were limits to an individuals’ responsibility once key family members had been informed, who then had to take responsibility for continuing dissemination of information. Whilst there was an implicit responsibility to inform the family of a mutation, information was edited or withheld in the best interest of relatives, dependent upon their perceived emotional readiness, resilience and current life stage and circumstances. The pre-existing family culture and the impact previous cancer diagnoses had upon the family also influenced the process of communication. Findings are discussed in relation to extant literature and implications for clinical practice are considered

The development of a methodology for examining the process of family communication of genetic test results

It is important to study communication processes in families where members are undergoing testing for genetic conditions because the information received from such testing is crucial not just to the individual concerned but also to other members of the biological family. This topic has received little research attention, in part because of the complexities of methodology required. In this paper we present the development of a method specifically designed for the examination of the content and process of communication of genetic information in families. The method aims to maximize ecological validity as far as is possible. We describe how participants and other family members are recruited and how data were collected. We outline three main data analytic strategies: a graphic to show how genetic information changes as it flows from clinic and through the family, an intensive qualitative analysis of the meaning and impact of the genetic information to different family members, and an informative genogram which plots key family dynamics. This method will be illustrated in relation to a study of ten family-groups where one individual has been found to carry a genetic mutation predisposing them to hereditary breast and ovarian cancer

Exploring family communication after receiving BRCA1/2 results

We describe results from a survey designed to assess patterns of communication within families shortly after an individual receives results of BRCA1 and BRCA2 mutation carrier status. Shortly after disclosure of BRCA1 and BRCA2 genetic test results, the proband was contacted by phone to administer the post disclosure survey. Questions asked included whether they had shared their results with their siblings or adult children, if there were difficulties in communicating the test results, and if there was any distress associated with the sharing of results. A total of 162 women who have received results from BRCA1 and BRCA2 genetic testing participated in the survey. The probands shared their results more often with their female than their male relatives (P < 0.001). Probands who had tested positive for a mutation in the BRCA1 or BRCA2 gene shared their results more often with their relatives than did probands who were not carriers (P = 0.002). Probands reported more often that their siblings rather than their adult children had difficulties understanding the results (P = 0.001). The probands who were carriers more often reported having difficulties explaining their results to their relatives (P < 0.001) and their relatives were upset on hearing the result more often than were the relatives of probands who were not carriers (P < 0.001). The probands who were carriers reported more often that they were upset explaining their results to their relatives than did the probands who were not carriers (P < 0.001). Individuals are disclosing their test results to their relatives. Probands who are BRCA1- or BRCA2-positive are more likely to experience difficulty and distress with the communication of their test results to family members

Assembling a consensus on actinic cheilitis: A Delphi study

Aims To discuss the terminology to define and classify actinic cheilitis (AC) and to build a consensus on the diagnostic and therapeutic approaches to AC. Methods Two-round Delphi study using a questionnaire including 34 closed sentences (9 on terminology and taxonomy, 5 on potential for malignant transformation, 12 on diagnostic aspects, 8 on treatment) and 8 open questions. Experts' agreement was rated using a Likert scale (1-7). Results A consensus was reached on 24 out 34 statements (73.5%) and on 5 out of 8 (62.5%) close-ended questions. The response rate was identical in both rounds (attrition of 0%). AC is the term with the highest agreement (median of 7 (strongly agree; IQR: 6-7)) and the lowest dispersion (VC = 21.33). 'Potentially malignant disorder' was the preferred classification group for AC (median of 7) and 85.6% of participants showing some level of agreement (CV < 50). Experts (66.75%) consider AC a clinical term (median: 7; IQR: 4-7) and believe definitive diagnosis can be made clinically (median: 6; IQR: 5-7), particularly by inspection and palpation (median: 5; IQR: 4-6). Histopathological confirmation is mandatory for the management of AC (median: 5; IQR: 2.5-7), even for homogeneous lesions (median: 5; IQR: 3.5-6). Consensus was reached on all treatment statements (VC < 50). Conclusions AC is a potentially malignant disorder with a significant lack of agreement on diagnostic criteria, procedures, biopsy indications and the importance of techniques to assist in biopsy. A consensus was reached on nomenclature and management of this disorder

Comparing family members’ motivations and attitudes towards genetic testing for hereditary breast and ovarian cancer: a qualitative analysis

Genetic testing for hereditary breast and ovarian cancer reveals significant risk information regarding one's chances of developing cancer that has potential implications for patients and their families. This study reports on the motivations and attitudes of index patients and their relatives towards genetic testing for hereditary breast and ovarian cancer. In total, 10 female index patients and 20 of their relatives were interviewed regarding their experiences of communicating genetic information within their families, and their motivations and attitudes towards genetic testing. The analysis found two types of ‘family groups’: groups strongly committed to genetic testing and groups uncertain about testing. Within committed family groups, index patients and their relatives felt obliged to be tested for others, leading some relatives to be tested without having fully thought through their decision or the implications of knowing their mutation status. These family groups also described considerations in relation to the value of testing for themselves. In family groups uncertain about testing, relatives had not attended for predictive testing, had postponed decision making until some point in the future or had expressed ambivalence about the value of testing for themselves. Results suggest the value of explicitly acknowledging motivations for genetic testing within the context of family obligations, relationships and communication, and the possible value of involving family members in genetic counselling and decision making from a family's first contact with genetic services