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Genetic Counseling and Genetic Testing in Precision Medicine
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Genetic Counseling and Genetic Testing in Precision Medicine

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Omics/Informatics".

Deadline for manuscript submissions: closed (20 November 2022) | Viewed by 35333

Special Issue Editors

Dr. Erin Turbitt

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Guest Editor
Discipline of Genetic Counselling, Graduate School of Health, University of Technology Sydney, Ultimo, NSW, Australia
Interests: decision making; research ethics; pediatrics; genetic testing and counseling
Dr. Chris Jacobs

E-Mail Website
Guest Editor
Discipline of Genetic Counselling, Graduate School of Health, University of Technology Sydney, Ultimo, NSW, Australia
Interests: cancer genetics; genetic counseling; communication; health behavior change
Dr. Alison McEwen

E-Mail Website
Guest Editor
Discipline of Genetic Counselling, Graduate School of Health, University of Technology Sydney, Ultimo, NSW, Australia
Interests: genetic testing and counseling; education; diversity and inclusion

Special Issue Information

Dear Colleagues,

Advances in genomic technologies have led to innovation in healthcare and medicine, improving patient outcomes. The concept of precision medicine is gaining momentum. A key aspect of delivering comprehensive, timely and equitable precision medicine lies in optimizing the delivery of health services, including genetic counseling and genetic testing. Improvements in genetic counseling and genetic testing have enabled the precision medicine approach to deliver the “right treatment (or care) to the right patient at the right time.” This Special Issue of the Journal of Personalized Medicine aims to highlight the current state of the science in genetic counseling and testing in precision medicine, and discusses some of the latest findings in the field. Studies include those that explore the delivery of polygenic risk score (PRS) information to clients, genetic health professionals’ role in health behavior change, ethical considerations for delivering precision medicine, and work from a diverse range of fields including education, decision making and communication.

Dr. Erin Turbitt
Dr. Chris Jacobs
Dr. Alison McEwen
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Personalized Medicine is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • genetic counseling
  • genetic testing
  • precision medicine
  • education
  • decision making
  • risk communication
  • ethics
  • behavior change

Published Papers (15 papers)

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Editorial

Jump to: Research, Review, Other

4 pages, 195 KiB  
Editorial
Special Issue: “Genetic Counseling and Genetic Testing in Precision Medicine”
by Erin Turbitt, Chris Jacobs and Alison McEwen
J. Pers. Med. 2023, 13(8), 1192; https://doi.org/10.3390/jpm13081192 - 27 Jul 2023
Cited by 1 | Viewed by 1514
Abstract
Progress in genomic technologies has spurred innovation in healthcare and medicine, contributing to improved health and well-being [...] Full article
(This article belongs to the Special Issue Genetic Counseling and Genetic Testing in Precision Medicine)

Research

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12 pages, 252 KiB  
Article
Family Communication about Diagnostic Genetic Testing for Younger-Onset Dementia
by Alice Poulton, Lisette Curnow, Dhamidhu Eratne and Adrienne Sexton
J. Pers. Med. 2023, 13(4), 621; https://doi.org/10.3390/jpm13040621 - 01 Apr 2023
Cited by 1 | Viewed by 1377
Abstract
Younger-onset dementia (YOD) refers to onset before 65 years of age and may be associated with a genetic cause. Family communication surrounding any genetic risk is complex, and this process may be further complicated in a YOD context due to its effects on [...] Read more.
Younger-onset dementia (YOD) refers to onset before 65 years of age and may be associated with a genetic cause. Family communication surrounding any genetic risk is complex, and this process may be further complicated in a YOD context due to its effects on cognition, behaviour, and associated psychosocial consequences. This study aimed to investigate how individuals experience family communication about potential genetic risk and testing for YOD. Thematic analysis was performed on verbatim transcripts of nine semi-structured interviews undertaken with family members who attended a neurogenetics clinic due to a relative diagnosed with YOD. The interviews explored the participants’ experiences of learning that YOD might be inherited and the ensuing family communication about genetic testing. Four key themes emerged: (1) a clinical diagnostic odyssey was common and could be a motivator for genomic testing, (2) pre-existing family tension and/or disconnection was a common barrier, (3) family members’ autonomy was considered, and (4) avoidant coping strategies influenced communication. Communication regarding potential YOD genetic risk is a complicated process and may be influenced by pre-existing family dynamics, individual coping mechanisms, and a desire to promote autonomy in relatives. To promote effective risk communication, genetic counsellors should pre-emptively address family tensions that may be exacerbated in the context of genetic testing for YOD, with awareness that family strain during a preceding period of diagnostic odyssey is common. Genetic counsellors can offer psychosocial support to facilitate coping with this tension in an adaptive way. The findings also indicated the importance of extending genetic counselling support to relatives. Full article
(This article belongs to the Special Issue Genetic Counseling and Genetic Testing in Precision Medicine)
11 pages, 247 KiB  
Article
Australasian Genetic Counselors’ Perceptions of Their Role in Supporting Clients’ Behavior Change
by Chris Jacobs, Erin Turbitt, Alison McEwen and Lou Atkins
J. Pers. Med. 2023, 13(1), 30; https://doi.org/10.3390/jpm13010030 - 23 Dec 2022
Cited by 1 | Viewed by 1456
Abstract
Genetic testing does not always change health behavior. Effective behavior change requires a theory-driven coordinated set of activities (behavior change techniques). Genetic counselors are ideally positioned to facilitate behavior change. We aimed to explore genetic counselors’ perceptions of their role in supporting clients’ [...] Read more.
Genetic testing does not always change health behavior. Effective behavior change requires a theory-driven coordinated set of activities (behavior change techniques). Genetic counselors are ideally positioned to facilitate behavior change. We aimed to explore genetic counselors’ perceptions of their role in supporting clients’ behavior change to inform the design of an intervention. Recruitment was via a professional organization and genetics services. Data were collected from 26 genetic counselors via qualitative focus groups/interview. Transcripts were analyzed using thematic analysis and mapped to the COM-B model. We identified three behaviors genetic counselors wanted clients to change: attend appointments, access information, and share information with family members. Strategies for changing clients’ behavior included: assessing needs and capabilities, providing information and support, enabling and monitoring behavior change. Barriers included lack of behavior change skills and knowledge, lack of time, and beliefs about ownership of healthcare, directiveness of behavior change, and scope of practice. Equipping genetic counselors to deliver behavior change requires (i) education in behavior change theory and behavior change techniques, (ii) integration of capability, opportunity and motivation assessment into existing practice, and (iii) development of evidence-based strategies using behavior change tools to focus discussions and promote clients’ agency to change their behavior. Full article
(This article belongs to the Special Issue Genetic Counseling and Genetic Testing in Precision Medicine)
13 pages, 1110 KiB  
Article
Relatives from Hereditary Breast and Ovarian Cancer and Lynch Syndrome Families Forgoing Genetic Testing: Findings from the Swiss CASCADE Cohort
by Mahesh Sarki, Chang Ming, Monica Aceti, Günther Fink, Souria Aissaoui, Nicole Bürki, Rossella Graffeo, Karl Heinimann, Maria Caiata Zufferey, Christian Monnerat, Manuela Rabaglio, Ursina Zürrer-Härdi, Pierre O. Chappuis, Maria C. Katapodi and the CASCADE Consortium
J. Pers. Med. 2022, 12(10), 1740; https://doi.org/10.3390/jpm12101740 - 19 Oct 2022
Cited by 6 | Viewed by 2391
Abstract
Cascade genetic testing of relatives from families with pathogenic variants associated with hereditary breast and ovarian cancer (HBOC) or Lynch syndrome (LS) has important implications for cancer prevention. We compared the characteristics of relatives from HBOC or LS families who did not have [...] Read more.
Cascade genetic testing of relatives from families with pathogenic variants associated with hereditary breast and ovarian cancer (HBOC) or Lynch syndrome (LS) has important implications for cancer prevention. We compared the characteristics of relatives from HBOC or LS families who did not have genetic testing (GT (−) group) with those who had genetic testing (GT (+) group), regardless of the outcome. Self-administered surveys collected cross-sectional data between September 2017 and December 2021 from relatives participating in the CASCADE cohort. We used multivariable logistic regression with LASSO variable selection. Among n = 115 relatives who completed the baseline survey, 38% (n = 44) were in the GT (−) group. Being male (OR: 2.79, 95% CI: 1.10–7.10) and without a previous cancer diagnosis (OR: 4.47, 95% CI: 1.03–19.42) increased the odds of being untested by almost three times. Individuals from families with fewer tested relatives had 29% higher odds of being untested (OR: 0.71, 95% CI: 0.55–0.92). Reasons for forgoing cascade testing were: lack of provider recommendation, lack of time and interest in testing, being afraid of discrimination, and high out-of-pocket costs. Multilevel interventions designed to increase awareness about clinical implications of HBOC and LS in males, referrals from non-specialists, and support for testing multiple family members could improve the uptake of cascade testing. Full article
(This article belongs to the Special Issue Genetic Counseling and Genetic Testing in Precision Medicine)
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15 pages, 790 KiB  
Article
Communicating Personal Melanoma Polygenic Risk Information: Participants’ Experiences of Genetic Counseling in a Community-Based Study
by Amelia K. Smit, David Espinoza, Georgina L. Fenton, Judy Kirk, Jessica S. Innes, Michael McGovern, Sharne Limb, on behalf of the Managing Your Risk Study Group, Erin Turbitt and Anne E. Cust
J. Pers. Med. 2022, 12(10), 1581; https://doi.org/10.3390/jpm12101581 - 26 Sep 2022
Cited by 1 | Viewed by 1922
Abstract
Personalized polygenic risk information may be used to guide risk-based melanoma prevention and early detection at a population scale, but research on communicating this information is limited. This mixed-methods study aimed to assess the acceptability of a genetic counselor (GC) phone call in [...] Read more.
Personalized polygenic risk information may be used to guide risk-based melanoma prevention and early detection at a population scale, but research on communicating this information is limited. This mixed-methods study aimed to assess the acceptability of a genetic counselor (GC) phone call in communicating polygenic risk information in the Melanoma Genomics Managing Your Risk randomized controlled trial. Participants (n = 509) received personalized melanoma polygenic risk information, an educational booklet on melanoma prevention, and a GC phone call, which was audio-recorded. Participants completed the Genetic Counseling Satisfaction Survey 1-month after receiving their risk information (n = 346). A subgroup took part in a qualitative interview post-study completion (n = 20). Survey data were analyzed descriptively using SPSS, and thematic analysis of the qualitative data was conducted using NVivo 12.0 software. The survey showed a high level of acceptability for the GC phone call (mean satisfaction score overall: 4.3 out of 5, standard deviation (SD): 0.6) with differences according to gender (mean score for women: 4.4, SD: 0.6 vs. men: 4.2, SD: 0.7; p = 0.005), health literacy (lower literacy: 4.1, SD: 0.8; average: 4.3, SD: 0.6; higher: 4.4, SD: 0.6: p = 0.02) and polygenic risk group (low risk: 4.5, SD: 0.5, SD: average: 4.3, SD: 0.7, high: 4.3, SD: 0.7; p = 0.03). During the GC phone calls, the discussion predominately related to the impact of past sun exposure on personal melanoma risk. Together our findings point to the importance of further exploring educational and support needs and preferences for communicating personalized melanoma risk among population subgroups, including diverse literacy levels. Full article
(This article belongs to the Special Issue Genetic Counseling and Genetic Testing in Precision Medicine)
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14 pages, 780 KiB  
Article
What’s in a Name? Parents’ and Healthcare Professionals’ Preferred Terminology for Pathogenic Variants in Childhood Cancer Predisposition Genes
by Jacqueline D. Hunter, Eden G. Robertson, Kate Hetherington, David S. Ziegler, Glenn M. Marshall, Judy Kirk, Jonathan M. Marron, Avram E. Denburg, Kristine Barlow-Stewart, Meera Warby, Katherine M. Tucker, Brittany M. Lee, Tracey A. O’Brien and Claire E. Wakefield
J. Pers. Med. 2022, 12(8), 1327; https://doi.org/10.3390/jpm12081327 - 18 Aug 2022
Cited by 2 | Viewed by 2914
Abstract
Current literature/guidelines regarding the most appropriate term to communicate a cancer-related disease-causing germline variant in childhood cancer lack consensus. Guidelines also rarely address preferences of patients/families. We aimed to assess preferences of parents of children with cancer, genetics professionals, and pediatric oncologists towards [...] Read more.
Current literature/guidelines regarding the most appropriate term to communicate a cancer-related disease-causing germline variant in childhood cancer lack consensus. Guidelines also rarely address preferences of patients/families. We aimed to assess preferences of parents of children with cancer, genetics professionals, and pediatric oncologists towards terminology to describe a disease-causing germline variant in childhood cancer. Using semi-structured interviews we asked participants their most/least preferred terms from; ‘faulty gene,’ ‘altered gene,’ ‘gene change,’ and ‘genetic variant,’ analyzing responses with directed content analysis. Twenty-five parents, 6 genetics professionals, and 29 oncologists participated. An equal number of parents most preferred ‘gene change,’ ‘altered gene,’ or ‘genetic variant’ (n = 8/25). Parents least preferred ‘faulty gene’ (n = 18/25). Half the genetics professionals most preferred ‘faulty gene’ (n = 3/6); however this was least preferred by the remaining genetics professionals (n = 3/6). Many oncologists most preferred ‘genetic variant’ (n = 11/29) and least preferred ‘faulty gene’ (n = 19/29). Participants across all groups perceived ‘faulty gene’ as having negative connotations, potentially placing blame/guilt on parents/children. Health professionals described challenges selecting a term that was scientifically accurate, easily understood and not distressing to families. Lack of consensus highlights the need to be guided by families’ preferred terminology, while providing accurate explanations regarding implications of genetic findings. Full article
(This article belongs to the Special Issue Genetic Counseling and Genetic Testing in Precision Medicine)
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16 pages, 873 KiB  
Article
Outcomes of Importance to Patients in Reproductive Genetic Carrier Screening: A Qualitative Study to Inform a Core Outcome Set
by Ebony Richardson, Alison McEwen, Toby Newton-John, Ashley Crook and Chris Jacobs
J. Pers. Med. 2022, 12(8), 1310; https://doi.org/10.3390/jpm12081310 - 12 Aug 2022
Cited by 2 | Viewed by 2039
Abstract
There is significant heterogeneity in the outcomes assessed across studies of reproductive genetic carrier screening (RGCS). Only a small number of studies have measured patient-reported outcomes or included patients in the selection of outcomes that are meaningful to them. This study was a [...] Read more.
There is significant heterogeneity in the outcomes assessed across studies of reproductive genetic carrier screening (RGCS). Only a small number of studies have measured patient-reported outcomes or included patients in the selection of outcomes that are meaningful to them. This study was a cross-sectional, qualitative study of 15 patient participants conducted to inform a core outcome set. A core outcome set is an approach to facilitate standardisation in outcome reporting, allowing direct comparison of outcomes across studies to enhance understanding of impacts and potential harms. The aim of this study was to incorporate the patient perspective in the development of a core outcome set by eliciting a detailed understanding of outcomes of importance to patients. Data were collected via online, semi-structured interviews using a novel method informed by co-design and the nominal group technique. Data were analysed using reflexive thematic analysis. Outcomes elicited from patient stakeholder interviews highlighted several under-explored areas for future research. This includes the role of grief and loss in increased risk couples, the role of empowerment in conceptualising the utility of RGCS, the impact of societal context and barriers that contribute to negative experiences, and the role of genetic counselling in ensuring that information needs are met and informed choice facilitated as RGCS becomes increasingly routine. Future research should focus on incorporating outcomes that accurately reflect patient needs and experience. Full article
(This article belongs to the Special Issue Genetic Counseling and Genetic Testing in Precision Medicine)
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13 pages, 3500 KiB  
Article
Receiving Genomic Sequencing Results through the Victorian Undiagnosed Disease Program: Exploring Parental Experiences
by Jo Martinussen, Michal Chalk, Justine Elliott and Lyndon Gallacher
J. Pers. Med. 2022, 12(8), 1250; https://doi.org/10.3390/jpm12081250 - 29 Jul 2022
Cited by 4 | Viewed by 1696
Abstract
Rare diseases cumulatively affect a significant number of people, and for many, a diagnosis remains elusive. The Victorian Undiagnosed Disease Program (UDP-Vic) utilizes deep phenotyping, advanced genomic sequencing and functional studies to diagnose children with rare diseases for which previous clinical testing has [...] Read more.
Rare diseases cumulatively affect a significant number of people, and for many, a diagnosis remains elusive. The Victorian Undiagnosed Disease Program (UDP-Vic) utilizes deep phenotyping, advanced genomic sequencing and functional studies to diagnose children with rare diseases for which previous clinical testing has been non-diagnostic. Whereas the diagnostic outcomes of undiagnosed disease programs have been well-described, here, we explore how parents experience participation in the UDP-Vic and the impact of receiving both diagnostic and non-diagnostic genomic sequencing results for their children. Semi-structured interviews ranging in length from 25 to 105 min were conducted with 21 parents of children in the program. Ten participants were parents of children who received a diagnosis through the program, and eleven were parents of children who remain undiagnosed. Although the experiences of families varied, five shared themes emerged from the data: (1) searching for a diagnosis, (2) varied impact of receiving a result, (3) feelings of relief and disappointment, (4) seeking connection and (5) moving towards acceptance. The findings demonstrate the shared experience of parents of children with rare disease both before and after a genomic sequencing result. The results have implications for genetic counselors and clinicians offering genomic sequencing and supporting families of children with rare diseases. Full article
(This article belongs to the Special Issue Genetic Counseling and Genetic Testing in Precision Medicine)
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15 pages, 290 KiB  
Article
The Communication Chain of Genetic Risk: Analyses of Narrative Data Exploring Proband–Provider and Proband–Family Communication in Hereditary Breast and Ovarian Cancer
by Carla Pedrazzani, Monica Aceti, Reka Schweighoffer, Andrea Kaiser-Grolimund, Nicole Bürki, Pierre O. Chappuis, Rossella Graffeo, Christian Monnerat, Olivia Pagani, Manuela Rabaglio, Maria C. Katapodi and Maria Caiata-Zufferey
J. Pers. Med. 2022, 12(8), 1249; https://doi.org/10.3390/jpm12081249 - 29 Jul 2022
Cited by 10 | Viewed by 1939
Abstract
Low uptake of genetic services among members of families with hereditary breast and ovarian cancer (HBOC) suggests limitations of proband-mediated communication of genetic risk. This study explored how genetic information proceeds from healthcare providers to probands and from probands to relatives, from the [...] Read more.
Low uptake of genetic services among members of families with hereditary breast and ovarian cancer (HBOC) suggests limitations of proband-mediated communication of genetic risk. This study explored how genetic information proceeds from healthcare providers to probands and from probands to relatives, from the probands’ perspectives. Using a grounded-theory approach, we analyzed narrative data collected with individual interviews and focus groups from a sample of 48 women identified as carriers of HBOC-associated pathogenic variants from three linguistic regions of Switzerland. The findings describe the “communication chain”, confirming the difficulties of proband-mediated communication. Provider–proband communication is impacted by a three-level complexity in the way information about family communication is approached by providers, received by probands, and followed-up by the healthcare system. Probands’ decisions regarding disclosure of genetic risk are governed by dynamic and often contradictory logics of action, interconnected with individual and family characteristics, eventually compelling probands to engage in an arbitrating process. The findings highlight the relevance of probands’ involvement in the communication of genetic risk to relatives, suggesting the need to support them in navigating the complexity of family communication rather than replacing them in this process. Concrete actions at the clinical and health system levels are needed to improve proband-mediated communication. Full article
(This article belongs to the Special Issue Genetic Counseling and Genetic Testing in Precision Medicine)
14 pages, 280 KiB  
Article
The Clinical and Psychosocial Outcomes for Women Who Received Unexpected Clinically Actionable Germline Information Identified through Research: An Exploratory Sequential Mixed-Methods Comparative Study
by Laura E. Forrest, Rowan Forbes Shepherd, Erin Tutty, Angela Pearce, Ian Campbell, Lisa Devereux, Alison H. Trainer, Paul A. James and Mary-Anne Young
J. Pers. Med. 2022, 12(7), 1112; https://doi.org/10.3390/jpm12071112 - 07 Jul 2022
Cited by 3 | Viewed by 1597
Abstract
Background Research identifying and returning clinically actionable germline variants offer a new avenue of access to genetic information. The psychosocial and clinical outcomes for women who have received this ‘genome-first care’ delivering hereditary breast and ovarian cancer risk information outside of clinical genetics [...] Read more.
Background Research identifying and returning clinically actionable germline variants offer a new avenue of access to genetic information. The psychosocial and clinical outcomes for women who have received this ‘genome-first care’ delivering hereditary breast and ovarian cancer risk information outside of clinical genetics services are unknown. Methods: An exploratory sequential mixed-methods case-control study compared outcomes between women who did (cases; group 1) and did not (controls; group 2) receive clinically actionable genetic information from a research cohort in Victoria, Australia. Participants completed an online survey examining cancer risk perception and worry, and group 1 also completed distress and adaptation measures. Group 1 participants subsequently completed a semi structured interview. Results: Forty-five participants (group 1) and 96 (group 2) completed the online survey, and 31 group 1 participants were interviewed. There were no demographic differences between groups 1 and 2, although more of group 1 participants had children (p = 0.03). Group 1 reported significantly higher breast cancer risk perception (p < 0.001) compared to group 2, and higher cancer worry than group 2 (p < 0.001). Some group 1 participants described how receiving their genetic information heightened their cancer risk perception and exacerbated their cancer worry while waiting for risk-reducing surgery. Group 1 participants reported a MICRA mean score of 27.4 (SD 11.8, range 9–56; possible range 0–95), and an adaptation score of 2.9 (SD = 1.1). Conclusion: There were no adverse psychological outcomes amongst women who received clinically actionable germline information through a model of ‘genome-first’ care compared to those who did not. These findings support the return of clinically actionable research results to research participants. Full article
(This article belongs to the Special Issue Genetic Counseling and Genetic Testing in Precision Medicine)
12 pages, 1247 KiB  
Article
Educational Programme for Cancer Nurses in Genetics, Health Behaviors and Cancer Prevention: A Multidisciplinary Consensus Study
by Celia Diez de los Rios de la Serna, Paz Fernández-Ortega and Teresa Lluch-Canut
J. Pers. Med. 2022, 12(7), 1104; https://doi.org/10.3390/jpm12071104 - 05 Jul 2022
Cited by 2 | Viewed by 2665
Abstract
(1) Background: Most common hereditary cancers in Europe have been associated with lifestyle behaviors, and people affected are lacking follow up care. However, access to education programmes to increase knowledge on cancer and genetics and promote healthy lifestyle behaviors in people at high [...] Read more.
(1) Background: Most common hereditary cancers in Europe have been associated with lifestyle behaviors, and people affected are lacking follow up care. However, access to education programmes to increase knowledge on cancer and genetics and promote healthy lifestyle behaviors in people at high risk of cancer is scarce. This affects the quality of care of people with a hereditary risk of cancer. This study aimed to reach a multidisciplinary consensus on topics and competencies and competencies that cancer nurses need in relation to cancer, genetics, and health promotion. (2) Methods: A two-round online Delphi study was undertaken. Experts in cancer and genetics were asked to assess the relevance of eighteen items and to suggest additional terms. Consensus was defined as an overall agreement of at least 75%. (3) Results: A total of 74 multiprofessional experts from all around the world participated in this study including healthcare professionals working in genetics (39%), researchers in cancer and genetics (31%) and healthcare professionals with cancer patients (30%). Thirteen additional items were proposed. A total of thirty-one items reached consensus. (4) Conclusions: This multidisciplinary consensus study provide the essential elements to build an educational programme to increase cancer nurses’ skills to support the complex care of people living with a higher risk of cancer including addressing lifestyle behaviors. All professionals highlighted the importance of cancer nurses increasing their skills in cancer and genetics. Full article
(This article belongs to the Special Issue Genetic Counseling and Genetic Testing in Precision Medicine)
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15 pages, 538 KiB  
Article
Exploring Rare Disease Patient Attitudes and Beliefs regarding Genetic Testing: Implications for Person-Centered Care
by Andrew A. Dwyer, Melissa K. Uveges, Samantha Dockray and Neil Smith
J. Pers. Med. 2022, 12(3), 477; https://doi.org/10.3390/jpm12030477 - 16 Mar 2022
Cited by 4 | Viewed by 3041
Abstract
Most rare diseases are genetic in etiology and characterized by a ‘diagnostic odyssey’. Genomic advances have helped speed up the diagnosis for many rare disorders, opening new avenues for precision therapies. Little is known about patient attitudes, experiences, and beliefs about genetic testing [...] Read more.
Most rare diseases are genetic in etiology and characterized by a ‘diagnostic odyssey’. Genomic advances have helped speed up the diagnosis for many rare disorders, opening new avenues for precision therapies. Little is known about patient attitudes, experiences, and beliefs about genetic testing for the rare disease congenital hypogonadotropic hypogonadism (CHH). Methods: We conducted six focus groups with patients with CHH (n = 58). Transcripts were coded by independent investigators and validated by external reviewers. Results: Major themes relating to pre-test experiences were ‘attitudes & beliefs’ (most frequently cited theme), which revealed altruism as a strong motivator for pursuing research testing and ‘information and support,’ which revealed a striking lack of pre-testing decisional support/genetic counseling. Major post-test themes included ‘return of results,’ revealing frustration with the lack of return of results and limited emotional support, and ‘family communication,’ describing challenging intrafamilial communication. Themes describing ethical concerns (i.e., privacy, use of samples) were least frequently noted and related to pre- and post-test experiences. Conclusions: Patients with CHH are highly motivated by altruism when pursuing testing but have significant unmet needs for pre-test decisional support and post-test counseling. It is regarded that patient values, beliefs and experiences can inform more person-centered approaches to genetic testing for rare diseases. Full article
(This article belongs to the Special Issue Genetic Counseling and Genetic Testing in Precision Medicine)
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Review

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15 pages, 1145 KiB  
Review
Genetic Counselling Needs for Reproductive Genetic Carrier Screening: A Scoping Review
by Samantha Edwards and Nigel Laing
J. Pers. Med. 2022, 12(10), 1699; https://doi.org/10.3390/jpm12101699 - 11 Oct 2022
Cited by 2 | Viewed by 1884
Abstract
Reproductive genetic carrier screening provides individuals and couples with information regarding their risk of having a child affected by an autosomal recessive or X-linked recessive genetic condition. This information allows them the opportunity to make reproductive decisions in line with their own beliefs [...] Read more.
Reproductive genetic carrier screening provides individuals and couples with information regarding their risk of having a child affected by an autosomal recessive or X-linked recessive genetic condition. This information allows them the opportunity to make reproductive decisions in line with their own beliefs and values. Traditionally, carrier screening has been accessed by family members of affected individuals. In recent years, improvements to accessibility and updates to recommendations suggest that all women planning or in early pregnancy should be offered reproductive genetic carrier screening. As uptake moves towards the population scale, how can the genetic counselling needs of such large-scale screening be met? A scoping review of the literature was performed to ascertain what the genetic counselling needs of reproductive genetic carrier screening are, and what future research is needed. Four broad themes were identified in the existing literature: (1) The offer—when and in what context to offer screening; (2) Information—the importance of and what to include in education, and pre- and post-test counselling; (3) Who and how—who the genetic counselling is performed by and how; (4) Personalization—how do we find the balance between standardized and individualized approaches? Based on the existing literature, we present a set of recommendations for consideration in implementing population-scale reproductive genetic carrier screening as well as suggested areas for future research. Full article
(This article belongs to the Special Issue Genetic Counseling and Genetic Testing in Precision Medicine)
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Other

25 pages, 2724 KiB  
Study Protocol
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation
by Alison D. Archibald, Belinda J. McClaren, Jade Caruana, Erin Tutty, Emily A. King, Jane L. Halliday, Stephanie Best, Anaita Kanga-Parabia, Bruce H. Bennetts, Corrina C. Cliffe, Evanthia O. Madelli, Gladys Ho, Jan Liebelt, Janet C. Long, Jeffrey Braithwaite, Jillian Kennedy, John Massie, Jon D. Emery, Julie McGaughran, Justine E. Marum, Kirsten Boggs, Kristine Barlow-Stewart, Leslie Burnett, Lisa Dive, Lucinda Freeman, Mark R. Davis, Martin J. Downes, Mathew Wallis, Monica M. Ferrie, Nicholas Pachter, Paul A. Scuffham, Rachael Casella, Richard J. N. Allcock, Royston Ong, Samantha Edwards, Sarah Righetti, Sebastian Lunke, Sharon Lewis, Susan P. Walker, Tiffany F. Boughtwood, Tristan Hardy, Ainsley J. Newson, Edwin P. Kirk, Nigel G. Laing, Martin B. Delatycki and The Mackenzie’s Mission Study Teamadd Show full author list remove Hide full author list
J. Pers. Med. 2022, 12(11), 1781; https://doi.org/10.3390/jpm12111781 - 28 Oct 2022
Cited by 10 | Viewed by 4914
Abstract
Reproductive genetic carrier screening (RGCS) provides people with information about their chance of having children with autosomal recessive or X-linked genetic conditions, enabling informed reproductive decision-making. RGCS is recommended to be offered to all couples during preconception or in early pregnancy. However, cost [...] Read more.
Reproductive genetic carrier screening (RGCS) provides people with information about their chance of having children with autosomal recessive or X-linked genetic conditions, enabling informed reproductive decision-making. RGCS is recommended to be offered to all couples during preconception or in early pregnancy. However, cost and a lack of awareness may prevent access. To address this, the Australian Government funded Mackenzie’s Mission—the Australian Reproductive Genetic Carrier Screening Project. Mackenzie’s Mission aims to assess the acceptability and feasibility of an easily accessible RGCS program, provided free of charge to the participant. In study Phase 1, implementation needs were mapped, and key study elements were developed. In Phase 2, RGCS is being offered by healthcare providers educated by the study team. Reproductive couples who provide consent are screened for over 1200 genes associated with >750 serious, childhood-onset genetic conditions. Those with an increased chance result are provided comprehensive genetic counseling support. Reproductive couples, recruiting healthcare providers, and study team members are also invited to complete surveys and/or interviews. In Phase 3, a mixed-methods analysis will be undertaken to assess the program outcomes, psychosocial implications and implementation considerations alongside an ongoing bioethical analysis and a health economic evaluation. Findings will inform the implementation of an ethically robust RGCS program. Full article
(This article belongs to the Special Issue Genetic Counseling and Genetic Testing in Precision Medicine)
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Brief Report
Motivations and Barriers to Participation in a Randomized Trial on Melanoma Genomic Risk: A Mixed-Methods Analysis
by Gabriela Mercado, Ainsley J. Newson, David Espinoza, The Managing Your Risk Study Group, Anne E. Cust and Amelia K. Smit
J. Pers. Med. 2022, 12(10), 1704; https://doi.org/10.3390/jpm12101704 - 12 Oct 2022
Cited by 2 | Viewed by 1393
Abstract
The evolution of polygenic scores for use in for disease prevention and control compels the development of guidelines to optimize their effectiveness and promote equitable use. Understanding the motivations and barriers to participation in genomics research can assist in drafting these standards. We [...] Read more.
The evolution of polygenic scores for use in for disease prevention and control compels the development of guidelines to optimize their effectiveness and promote equitable use. Understanding the motivations and barriers to participation in genomics research can assist in drafting these standards. We investigated these in a community-based randomized controlled trial that examined the health behavioral impact of receiving personalized melanoma genomic risk information. We examined participant responses in a baseline questionnaire and conducted interviews post-trial participation. Motivations differed in two ways: (1) by gender, with those identifying as women placing greater importance on learning about their personal risk or familial risk, and how to reduce risk; and (2) by age in relation to learning about personal risk, and fear of developing melanoma. A barrier to participation was distrust in the handling of genomic data. Our findings provide new insights into the motivations for participating in genomics research and highlight the need to better target population subgroups including younger men, which will aid in tailoring recruitment for future genomic studies. Full article
(This article belongs to the Special Issue Genetic Counseling and Genetic Testing in Precision Medicine)
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