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In the genomic era, the availability of gene panel and whole genome/exome sequencing is rapidly increasing. Opportunities for providing former patients with new genetic information are also increasing over time and recontacting former patients with new information is likely to become more common. Breast cancer Refined Analysis of Sequence Tests—Risk And Penetrance (BRA‐STRAP) is an Australian study of individuals who had previously undertaken BRCA1 and BRCA2 genetic testing, with no pathogenic variants detected. Using a waiver of consent, stored DNA samples were retested using a breast/ovarian cancer gene panel and clinically significant results returned to the patient (or next of kin, if deceased). This qualitative study aimed to explore patient experiences, opinions, and expectations of recontacting in the Australian hereditary cancer setting. Participants were familial cancer clinic patients (or next of kin) who were notified of a new pathogenic variant identified via BRA‐STRAP. In‐depth, semi‐structured interviews were conducted approximately 6 weeks post‐result. Interviews were transcribed verbatim and analyzed using an inductive thematic approach. Thirty participants (all female; average age = 57; range 36–84) were interviewed. Twenty‐five were probands, and five were next of kin. Most women reported initial shock upon being recontacted with unexpected news, after having obtained a sense of closure related to their initial genetic testing experiences and cancer diagnosis. For most, this initial distress was short‐lived, followed by a process of readjustment, meaning‐making and adaptation that was facilitated by perceived clinical and personal utility of the information. Women were overall satisfied with the waiver of consent approach and recontacting process. Results are in line with previous studies suggesting that patients have positive attitudes about recontacting. Women in this study valued new genetic information gained from retesting and were satisfied with the BRA‐STRAP recontact model. Practice implications to facilitate readjustment and promote psychosocial adaptation were identified. [ABSTRACT FROM AUTHOR]

Background: Germline genome sequencing in childhood cancer precision medicine trials may reveal pathogenic or likely pathogenic variants in cancer predisposition genes in more than 10% of children. These findings can have implications for diagnosis, treatment, and the child's and family's future cancer risk. Understanding parents' perspectives of germline genome sequencing is critical to successful clinical implementation. Methods: A total of 182 parents of 144 children (<18 years of age) with poor‐prognosis cancers enrolled in the Precision Medicine for Children with Cancer trial completed a questionnaire at enrollment and after the return of their child's results, including clinically relevant germline findings (received by 13% of parents). Parents' expectations of germline genome sequencing, return of results preferences, and recall of results received were assessed. Forty‐five parents (of 43 children) were interviewed in depth. Results: At trial enrollment, most parents (63%) believed it was at least "somewhat likely" that their child would receive a clinically relevant germline finding. Almost all expressed a preference to receive a broad range of germline genomic findings, including variants of uncertain significance (88%). Some (29%) inaccurately recalled receiving a clinically relevant germline finding. Qualitatively, parents expressed confusion and uncertainty after the return of their child's genome sequencing results by their child's clinician. Conclusions: Many parents of children with poor‐prognosis childhood cancer enrolled in a precision medicine trial expect their child may have an underlying cancer predisposition syndrome. They wish to receive a wide scope of information from germline genome sequencing but may feel confused by the reporting of trial results. Parents of children with poor‐prognosis cancer enrolled in a precision medicine trial may overestimate the likelihood of their child receiving a clinically relevant germline finding and may feel confused by the reporting of trial results. We discuss the implications of these data for informed‐consent and return of results practices in precision medicine trials. [ABSTRACT FROM AUTHOR]

Background: Fifteen percent of ovarian, tubal, and peritoneal (OTP) invasive epithelial cancers are linked to an underlying heritable pathogenic variant (PV) in the BRCA1/2 cancer susceptibility genes. Identifying a PV has management implications for an affected individual and relatives. Cancer team‐facilitated genetic testing (mainstreaming) aims to provide equitable systematic access to genetic testing for appropriate patients. Aim: To evaluate a multi‐disciplinary team (MDT)‐led mainstream germline genetic testing program for OTP cancer at a tertiary referral centre. Materials and methods: We conducted a retrospective review of our MDT‐led mainstream genetic testing program initiated in June 2017. We included all patients diagnosed with OTP cancer registered with the hospital gynaecological oncology MDT from program initiation to December 2020. Patients were considered eligible for testing if they were diagnosed with a high‐grade epithelial OTP AND ≤70 years, OR if >70 with a first/second degree relative with breast and/or ovarian cancer OR Jewish ancestry. Results: Of 205 women diagnosed with high‐grade epithelial OTP cancer, 140 were eligible for mainstreaming. Eight‐five percent were mainstreamed, with the gynae‐oncologists facilitating 64.5% of tests. The overall PV detection rate in BRCA1/2 was 10.1% (BRCA1 n = 9, BRCA2 n = 3). The median turnaround time (TAT) was 44.5 days (range 16–118). All women with PV were referred to the Familial Cancer Service for further assessment and five (of six eligible; 83%) were subsequently treated with polyadenosine diphosphate ribose polymerase inhibitors. Cascade testing was undertaken in 75% of families with a mean of three relatives tested per proband. Conclusion: Mainstreamed genetic testing is feasible, with an acceptable TAT, ensuring adequate opportunity to inform treatment decisions. Tumour testing and inclusion of moderate‐risk cancer predisposition genes in mainstreaming represent potential pathways that will require further exploration. [ABSTRACT FROM AUTHOR]

Communication with children about hereditary conditions in the family can be difficult for parents. Yet, good communication strategies are leading determinants of adaptation and resilience. With inherited cancer predisposition syndromes that can affect young children such as Li‐Fraumeni syndrome (LFS) and hereditary pheochromocytoma and paraganglioma syndrome (HPPS), genetic testing and subsequent surveillance in at‐risk children is the optimal intervention. Given testing often commences early, providing children and their parents with appropriate genetic counseling and communication strategies is important for informed decision making. To inform such communication strategies, we used a bibliotherapeutic framework, where stories are delivered prescriptively (i.e., 'bibliotherapy'), to develop a psycho‐educational resource for children aged 5–10 years old at risk of either LFS or HPPS. Illustrated storybooks for children were created based on models of developmental comprehension. To ascertain their experience, parents were invited to read a storybook to their child/ren and participate in semi‐structured qualitative interviews. Transcripts were analyzed thematically using a general inductive approach. The bibliotherapeutic resource reportedly supported parents with communication about these issues without raising emotional distress in either themselves or their children. The key stages of a bibliotherapeutic interaction were facilitated by the use of this resource, and all parents reported that it would have been useful when their children were first tested and/or diagnosed. This study lays the foundation for the application of bibliotherapy as a psycho‐educational intervention in genetic counseling and demonstrates that bibliotherapy may improve the process of communication between parents and children regarding pediatric‐inherited cancer syndromes. [ABSTRACT FROM AUTHOR]

Our previously published health economic modelling studies of DNA screening for HBOC, Lynch syndrome20 and familial hypercholesterolaemia21 provide a platform for the consideration of DNA screening in Australia. Our model on DNA screening for familial hypercholesterolaemia genes found similar results.21 Our future modelling will assess the combined benefits and costs of screening for familial cancer genes and familial hypercholesterolaemia genes concurrently in the same test. At $200 per test, savings in prevented cancer treatment outweighed DNA screening costs, projecting DNA screening to be cost-saving for the Australian public health system (for cancer genes alone). Keywords: Genetic counselling; Mass screening; Population health EN Genetic counselling Mass screening Population health 278 280 3 04/05/22 20220401 NES 220401 Australia will take a world-first step towards offering preventive DNA screening through the public health care system In adult-onset genomic conditions, such as hereditary breast and ovarian cancer (HBOC), Lynch syndrome and familial hypercholesterolaemia, certain DNA variants confer high risk of developing future disease.1 DNA screening for these conditions could thereby identify medically actionable genetic risk factors, prompting timely risk management and informed decision making from early adulthood to facilitate early detection or prevention.2 Despite this opportunity, diagnostic rates for these conditions remain low,2-4 limited by restricted access to genetic testing and lack of awareness. [Extracted from the article]

The article offers information on the model of Medicare-funded cancer genetic testing in Australia, discussing the calculation of the eligibility for the Medicare benefit, the testing of breast cancer genes such as BRCA1 or BRCA2, and the laboratory requirements for predictive testing.

Communicating personalized genomic risk results for common diseases to the general population as a form of tailored prevention is novel and may require alternative genetic counseling service delivery models. We describe the development and evaluation of a communication protocol for disclosing melanoma genomic risk information to the asymptomatic general population and assess participants’ satisfaction and acceptability. Participants (n = 117) were aged 22-69 years, living in New South Wales, Australia and unselected for family history. They provided a saliva sample and had genomic testing for melanoma for low to moderate penetrant melanoma susceptibility variants in 21 genes. Participants could choose to receive their results from a genetic counselor via telephone, followed by a mailed booklet or to receive their risk result via mailed booklet only with a follow-up call for those at high risk. A follow-up questionnaire was completed by 85% of participants 3-months later. Most participants (80%) elected to receive their result via telephone. Participants were highly satisfied with the delivery of results (mean 3.4 out of 4, standard deviation 0.5), and this did not differ by delivery mode, risk category, age or sex. On follow-up, 75% accurately recalled their risk category, 6% indicated a preference for a different delivery mode, either electronic or face-to-face. The process of disclosing genomic risk results to the general population over the telephone with accompanying written material was feasible and acceptable, and may be useful for communicating polygenic risk for common diseases in the context of increasing demands for genomic testing. [ABSTRACT FROM AUTHOR]

Objective: Women diagnosed with breast cancer or ductal carcinoma in situ and those with a genetic susceptibility to developing this disease face the challenging decision of whether or not to undergo breast reconstruction following mastectomy. As part of a large randomized controlled trial, this qualitative study examined women's experiences of using the Breast RECONstruction Decision Aid (BRECONDA) and health professionals' feedback regarding the impact of this resource on patients' knowledge and decision making about breast reconstruction.Method: Semistructured interviews were conducted with women who accessed the BRECONDA intervention (N = 36) and with their healthcare providers (N = 6). All interviews were transcribed verbatim and subjected to thematic analysis by 3 independent coders.Results: Participants reported an overall positive impression, with all interviewees endorsing this decision aid as a useful resource for women considering reconstructive surgery. Thematic analysis of patient interviews revealed 4 themes: overall impressions and aesthetics; personal relevance and utility; introducing BRECONDA; and advantages and suggested improvements. Analysis of health professionals' interviews also revealed 4 themes: need for BRECONDA, impact of BRECONDA, potential difficulties that may arise in using the decision aid, and recommending BRECONDA to patients. Patients indicated that they derived benefit from this resource at all stages of their decision-making process, with the greatest perceived benefit being for those early in their breast reconstruction journey.Conclusion: These findings support the use of BRECONDA as an adjunct to clinical consultation and other information sources. [ABSTRACT FROM AUTHOR]

Objectives: To explore with Arabic-Australian patients and their communities, the cultural context of cancer, both sporadic and inherited, by examining their beliefs about its causes and the modes of communication about cancer with family, friends and the community. Method: The design is an ethnographic and qualitative interview study with thematic analysis. Arabic-Australian participants were recruited in two stages. First, patients who had attended a family cancer clinic in Sydney, Australia, were invited to participate. Second, participants from the general community in Sydney were recruited with the aim of either verifying or challenging the reported findings from the clinic sample. Results: A total of 38 interviews with 26 females and 12 males provided cultural descriptions of illnesses, including cancer, and its causes. The terminologies around cancer and a cancer diagnosis were believed to have more impact and generate greater fear in people in the Arabic community living in Australia than the terms used to describe a diagnosis of other illnesses. Despite this, those interviewed were aware of screening and community programs and were open to discuss their views about cancer with the research team. Conclusion: Arabic-Australians are an important group in the community with unique culture-specific attributes that can affect communication about cancer in the clinical setting. Barriers to communication such as the negative feelings associated with the word cancer and the stigma it arouses must be acknowledged. Culturally competent clinical practices with this group include the incorporation of these belief systems into the communication process and avoidance of stereotyping. Copyright © 2010 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

This paper examines the culturally determined attitudes and beliefs about kinship, causation of hereditary cancer and other illnesses and the importance of family history amongst Arabic-Australians. Ethnographic interviews were conducted initially with individuals who had attended a family cancer clinic and subsequently with community members. Our aim was to either verify or challenge the reported findings from the clinic sample. Interviews with 38 participants provided cultural descriptions of hereditary illnesses, including cancer, and their causes. While respondents recognized family history as an important factor that reflects on one's likelihood of successful child-bearing, models of kinship described were not in line with Western concepts. Important issues emerged which need to be recognized as potential barriers to access to genetics services and challenges in this community. These include a lack of awareness of inherited cancer and the impact of consanguinity on the understanding of kinship in this community. [ABSTRACT FROM AUTHOR]

Telegenetics offers an alternative model of delivering genetic counseling to rural and outreach areas; however there is a dearth of qualitative research into the patient's experience. Twelve women who had received telemedicine genetic counseling for hereditary breast and/or ovarian cancer (HBOC) within the previous 12 months participated in a semi-structured telephone interview. The interview explored women's experience with telegenetics, satisfaction, perceived advantages and disadvantages and quality of the interaction with their genetic professionals. Overall women were highly satisfied with telegenetics. Telegenetics offered them convenience and reduced travel and associated costs. The majority of women described feeling a high degree of social presence, or rapport, with the off-site genetic clinician. One woman with a recent cancer diagnosis, reported that telemedicine was unable to meet her needs for psychosocial support. This finding highlights the need to be mindful of the psychosocial support needs of women with a recent diagnosis being seen via telegenetics. Patients attending for HBOC genetic counseling are generally highly satisfied with the technology and the interaction. Care should be taken, however, with patients with more complex psychosocial needs. [ABSTRACT FROM AUTHOR]

The article reports on a study that assessed the effectiveness of a customized decision aid with regards to genetic testing for the risk of hereditary nonpolyposis colorectal cancer (HNPCC). Results revealed that the patients who employed the decision aid had substantially lower levels of decisional conflict with regards to genetic testing.

Over the last decade there have been rapid advances in our knowledge about the molecular basis of many inherited disorders. Molecular testing is now available for many conditions and may assist in the management of the individual and their extended family. One area where the use of genetic testing has expanded rapidly is in the area of hereditary cancer, particularly in relation to hereditary breast/ovarian and hereditary bowel cancer syndromes. Although individually uncommon, there are also a number of rare cancer susceptibility syndromes affecting the paediatric population, where genetic testing may assist in patient management. The following review is a practical guide for clinicians about the role of genetic testing for some rare tumour susceptibilities pertaining to children, including retinoblastoma, familial adenomatous polyposis, juvenile polyposis syndromes, Von Hippel–Lindau disease, multiple endocrine neoplasia, Li–Fraumeni syndrome and neurofibromatosis. We concentrate on disorders where germline mutation testing is routinely available and influences patient management. We have placed specific emphasis on the paediatric presentation of these disorders and provide some guidance to clinicians about surveillance protocols in affected individuals and ‘at-risk’ family members. [ABSTRACT FROM AUTHOR]