Genetic health professionals and the communication of genetic information in families: Practice during and after a genetic consultation

Forrest, Laura; Delatycki, Martin B.; Curnow, Lisette; Skene, Loane; Aitken, MaryAnne

doi:10.1002/ajmg.a.33385

Cited by 51 publications

(45 citation statements)

References 17 publications

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“…33,34 Assisting consultands in the communication of information to at-risk relatives. This theme comprises nine papers with studies focussing on professionals' practice [35][36][37] and specific interventions to assist consultands in the communication of information to at-risk relatives. [38][39][40][41][42][43] Features of practice included psychoeducational guidance and information aids that were used as adjuncts to clinical practice.…”

Section: Studies Included In Quantitative Synthesismentioning

confidence: 99%

How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence

et al. 2015

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Supporting consultands to communicate risk information with their relatives is key to obtaining the full benefits of genetic health care. To understand how health-care professionals address this issue in clinical practice and what interventions are used specifically to assist consultands in their communication of genetic information to appropriate relatives, we conducted a systematic review. Four electronic databases and four subject-specific journals were searched for papers published, in English, between January 1997 and May 2014. Of 2926 papers identified initially, 14 papers met the inclusion criteria for the review and were heterogeneous in design, setting and methods. Thematic data analysis has shown that dissemination of information within families is actively encouraged and supported by professionals. Three overarching themes emerged: (1) direct contact from genetic services: sending letters to relatives of mutation carriers; (2) professionals' encouragement of initially reluctant consultands to share relevant information with at-risk relatives and (3) assisting consultands in communicating genetic information to their at-risk relatives, which included as subthemes (i) INTRODUCTIONSupporting consultands of genetic services to effectively communicate information about genetic risks with their relatives is key to obtaining the full benefits of genetic health care. 1 Genetic health practitioners typically rely on the proband (or, for child probands, the parents) to inform relatives about their potential at-risk status. Passing on such information can be problematic, which may prevent relatives from making informed choices regarding risk management of the disease and life planning decisions. 2 Individual characteristics and patterns of family behaviour and relationships, disease characteristics and cultural factors may withhold or delay disclosure of genetic information to atrisk relatives, even when consultands see this as their personal responsibility. [3][4][5][6][7] Although guidelines recommend that professionals should not contact family members directly, that also state that professionals should actively encourage consultands to transmit relevant risk information to relatives and support them throughout the communication process; however, there is lack of clarity regarding how this should be done. 8,9 There has been some discussion on how to cascade information about genetic health risks to the relatives of patients with familial hyper-cholesterolaemia, including the active contacting of relatives directly by professionals, although this depends entirely upon information provided by the proband. 10 With genetic diseases increasingly treatable and preventable, some recommend a more proactive role of genetic professionals. 11,12

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Section: Studies Included In Quantitative Synthesismentioning

confidence: 99%

How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence

et al. 2015

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“…The mean number of information statements communicated to patients was 21 (range [16][17][18][19][20][21][22][23][24][25][26].…”

Section: Participantsmentioning

confidence: 99%

“…18 A worldwide survey of genetic counselling practice in facilitating family communication found that, although 90% of participants stated that they always identify at-risk relatives and encourage family communication, 41% never write a letter specifically for at-risk relatives. 19 This observational study aimed to (i) compare the accuracy of information among patients and relatives following genetic counselling with index patients about a BRCA1/2 mutation, (ii) compare the accuracy of information about general genetics and hereditary cancer and (iii) examine whether accuracy among relatives improved when information was provided directly by genetics health professionals. This was part of a larger study examining the experience and process of family communication using qualitative and quantitative methods.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2014

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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 ¼ 0.017). Both groups recalled a lower proportion of information about hereditary cancer than about genetics (P ¼ 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 ¼ 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. INTRODUCTIONOne of the goals of genetic counselling in the context of familial cancer risk is to provide relevant information in order to enable informed decision-making about genetic testing and risk management. 1 Until recently, genetic testing has generally been offered to women with breast or ovarian cancer after completing cancer treatment. However, BRCA1/2 testing is increasingly offered to women with newly diagnosed breast cancer as part of their oncology management. 2 Thus, the information that the patient understands and recalls about a cancer-predisposing gene mutation may have an impact on treatment decisions as well as on the management of future cancer risks for herself and her relatives. 3,4 Responsibility for sharing information within families once a cancer-predisposing gene mutation has been identified generally falls on the individual with cancer who receives the initial mutation result. 5 Families prefer information to be passed on by the patient; 6 yet, although most families do appear to communicate genetic information, 5 patients do not always share all information with all at-risk relatives. 7,8 There are many barriers to family communication about hereditary cancer, 9 including lack of a close relationship, 6 reluctance to upset relatives, 10 youth or emotional readiness of relatives, 11 family culture, 8 perception of the risks and benefits of the information 12 and personal beliefs about the causes of genetic illness. 13...

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“…These findings are in contrast with an international survey of genetic health professionals' practice that found that counseling consultands about at-risk family members and family communication occurred consistently during consultations. 19 However, a lack of documentation in the genetics files does not mean that this discussion did not occur; it may have occurred and not been recorded. This may have significant ramifications if there is litigation by at-risk family members who are unaware of their genetic risk.…”

Section: 13mentioning

confidence: 99%

An audit of clinical service examining the uptake of genetic testing by at-risk family members

Forrest

Delatycki

Curnow

et al. 2012

Genetics in Medicine

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Purpose: The aim of this study was to investigate the uptake of genetic testing by at-risk family members for four genetic conditions: chromosomal translocations, fragile X syndrome, Huntington disease, and spinal muscular atrophy. methods:A clinical audit was undertaken using genetics files from Genetic Health Services Victoria. Data were extracted from the files regarding the number of at-risk family members and the proportion tested. Information was also collected about whether discussion of atrisk family members and family communication during the genetic consultation was recorded. Results:The proportion of at-risk family members who had genetic testing ranged from 11% to 18%. First-degree family members were most frequently tested and the proportion of testing decreased by degree of relatedness to the proband. Smaller families were significantly more likely to have genetic testing for all conditions except Huntington disease. Female at-risk family members were significantly more likely to have testing for fragile X syndrome. conclusion:The majority of at-risk family members do not have genetic testing. Family communication is likely to influence the uptake of genetic testing by at-risk family members and therefore it is important that families are supported while communicating to ensure that at-risk family members are able to make informed decisions about genetic testing. 2012:14(1):122-128 Genet Med

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Genetic health professionals and the communication of genetic information in families: Practice during and after a genetic consultation

Cited by 51 publications

References 17 publications

How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence

How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence

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

An audit of clinical service examining the uptake of genetic testing by at-risk family members

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