The expectations and realities of nutrigenomic testing in australia: A qualitative study.

BACKGROUND: Consumer genomic testing for nutrition and wellness, (nutritional genomics), is becoming increasingly popular. Concurrently, health-care practitioners (HPs) working in private practice (including doctors interested in integrative medicine, private genetic counsellors, pharmacists, dieticians, naturopaths and nutritionists) are involved as test facilitators or interpreters. OBJECTIVE: To explore Australian consumers' and HPs' experiences with nutrigenomic testing. METHOD: Semi-structured in-depth interviews were conducted using predominantly purposive sampling. The two data sets were analysed individually, then combined, using a constant comparative, thematic approach. RESULTS: Overall, 45 interviews were conducted with consumers (n = 18) and HPs (n = 27). Many of the consumer interviewees experienced chronic ill-health. Nutrigenomic testing was perceived as empowering and a source of hope for answers. While most made changes to their diet/supplements post-test, self-reported health improvements were small. A positive relationship with their HP appeared to minimize disappointment. HPs' adoption and views of nutrigenomic testing varied. Those enthusiastic about testing saw the possibilities it could offer. However, many felt nutrigenomic testing was not the only 'tool' to utilize when offering health care. DISCUSSION: This research highlights the important role HPs play in consumers' experiences of nutrigenomics. The varied practice suggests relevant HPs require upskilling in this area to at least support their patients/clients, even if nutrigenomic testing is not part of their practice. PATIENT OR PUBLIC CONTRIBUTION: Advisory group included patient/public group representatives who informed study design; focus group participants gave feedback on the survey from which consumer interviewees were sourced. This informed the HP data set design. Interviewees from HP data set assisted with snowball sampling.

Lessons learnt from implementing change in newborn bloodspot screening processes over more than a decade: Midwives, genetics and education.

OBJECTIVE: To explore midwives' roles and education requirements in newborn bloodspot screening (NBS) for genetic conditions, as programs and supporting education evolve over time. BACKGROUND: NBS processes are evolving and will continue to evolve with new genetic and genomic technologies. Midwives have a critical role in facilitating NBS, as they are the primary healthcare professional to interact with parents at the time of collecting the bloodspot. As new consent processes and genomic technologies are incorporated into NBS, midwives need to stay up-to-date with these changes, so that parents can make an informed decision about having the test and future use of the DNA sample. RESEARCH DESIGN/SETTING: We used a cross-sectional approach to analyse midwives' knowledge and behaviour in 2005/6 and 2016, with changes in NBS processes and education introduced in 2011. FINDINGS: We found midwives' NBS knowledge improved in 8/18 areas after a 10-year period, mostly related to process changes, but there was also an increase in misconceptions regarding which conditions are screened. Areas of significant improvement were not consistently explained by participation in continuing professional development (CPD). We found midwives used official brochures and NBS collection cards to guide discussions with families. Changes to the NBS collection cards, together with the content of CPD materials, aligned with the significant improvements and deficits we observed. When considering potential changes to future maternity care that incorporates emerging genomic technologies, midwives indicated the main barrier was their lack of knowledge; the majority (60.3%) reported supervision support to attend genomics CPD. KEY CONCLUSIONS: Changes in NBS practice should be implemented through multifaceted programs that include education sessions and procedural prompts. The NBS collection card should be seen not just as a legal consent document but also as an educational tool. IMPLICATIONS FOR PRACTICE: As NBS programs evolve through the addition of conditions screened for or changes to technology or consent processes, multiple strategies should be applied to upskill midwives to ensure they can best support parents to make informed choices.

Exploring the feasibility and utility of exome-scale tumour sequencing in a clinical setting.

BACKGROUND: Technology has progressed from single gene panel to large-scale genomic sequencing. This is raising expectations from clinicians and patients alike. The utility and performance of this technology in a clinical setting needs to be evaluated. AIM: This pilot study investigated the feasibility of using exome-scale sequencing (ESS) to identify molecular drivers within cancers in real-time for Precision Oncology in the clinic. METHODS: Between March 2014 and March 2015, the Victorian Comprehensive Cancer Centre Alliance explored the feasibility and utility of ESS in a pilot study. DNA extracted from the tumour specimens underwent both ESS and targeted 'hotspot' sequencing (TS). Blood was taken for germline analysis. A multi-disciplinary molecular tumour board determined the clinical relevance of identified mutations; in particular, whether they were 'actionable' and/or 'druggable'. RESULTS: Of 23 patients screened, 15 (65%) met the tissue requirements for genomic analysis. TS and ESS were successful in all cases. ESS identified pathogenic somatic variants in 73% (11/15 cases) versus 53% (8/15 cases) using TS. Clinically focused ESS identified 63 variants, consisting of 30 somatic variants (including all 13 identified by TS) and 33 germline variants. Overall, there were 48 unique variants. ESS had a clinical impact in 53% (8/15 cases); 47% (7/15 cases) were referred to the familial cancer clinic, and 'druggable' targets were identified in 53% (8/15 cases). CONCLUSION: ESS of tumour DNA impacted clinical decision-making in 53%, with 20% more pathogenic variants identified through ESS than TS. The identification of germline variants in 47% was an unexpected finding.

Preparing for genomic medicine: a real world demonstration of health system change.

Organisations and governments seeking to implement genomics into clinical practice face numerous challenges across multiple, diverse aspects of the health care system. It is not sufficient to tackle any one aspect in isolation: to create a system that supports genomic medicine, they must be addressed simultaneously. The growing body of global knowledge can guide decision-making, but each jurisdiction or organisation needs a model for genomic (or personalised) medicine that is tailored to its unique context, its priorities and the funds available. Poor decisions could greatly reduce the benefits that could potentially arise from genomic medicine. Demonstration projects enable models to be tested, providing valuable evidence and experience for subsequent implementation. Here, we present the Melbourne Genomics Health Alliance demonstration project as an exemplar of a collaborative, holistic approach to phased implementation of genomics across multiple autonomous institutions. The approach and lessons learned may assist others in determining how best to integrate genomics into their healthcare system.

The missing element: consanguinity as a component of genetic risk assessment.

PURPOSE: There are no clinical practice data regarding collecting information on consanguinity as part of family history, despite its relevance for identifying at-risk pregnancies. We determined current practice and influencing factors in documenting consanguinity as part of pregnancy assessment by midwives, key health professionals in socialized medicine. METHODS: Data were gathered from midwives in Victoria, Australia, which contains an ethnically heterogeneous population. Current practice and issues influencing practice including frequency of enquiry and attitudes regarding collecting consanguinity and family history information were documented. RESULTS: Family history is collected by midwives, but is restricted to medical information only. Although 65.1% of midwives collect family history, only 6.4% ask about consanguinity. Direct questioning about consanguinity was seen to be difficult, reflecting social taboos, with discussion usually prompted by patient disclosure. The factor significantly associated with clinical practice in multivariate analysis was midwives' lack of confidence (adjusted odds ratio: 5.3 [95% confidence interval 1.3-22.1]) in discussing consanguinity. CONCLUSIONS: Organizational and social barriers prevent collecting information about consanguinity in midwifery practice, restricting identification of at-risk pregnancies. Change theory is applied to inform strategies to enhance the identification of consanguineous couples.

The beliefs, and reported and intended behaviors of unaffected men in response to their family history of prostate cancer.

PURPOSE: Genetic testing for hereditary cancer facilitates medical management and improves health outcomes. Genetic testing is not currently available for prostate cancer, but trials are underway to investigate if antiandrogens and selenium have a preventive role for at-risk individuals. To inform future genetic counseling, we sought to understand the pre-existing beliefs and behaviors of men with a family history of prostate cancer and explore their intention to adopt possible preventive behaviors in response to test results. METHODS: A survey was completed by 280 men (response: 59%). RESULTS: The belief that diet influenced prostate cancer risk was held by 73% of participants, whereas 37% believed in medication/natural therapies. Thirty-nine percent reported at least one change to their diet, alcohol consumption, smoking, exercise patterns, vitamin/mineral/supplement intake and/or medication/natural therapy in response to their family history. The men expressed interest in genetic testing with 92% "definitely" or "probably" interested. Definite interest was associated with number of affected relatives and prostate cancer-related anxiety. A positive genetic test would motivate 93% of men to make at least one behavioral change. CONCLUSIONS: Participants commonly believed behavioral factors influenced prostate cancer risk and reported that they would alter their behavior to reduce risk after (hypothetical) genetic testing.

The importance of program evaluation: how can it be applied to diverse genetics education settings?

The role of a genetic counselor often entails providing education to patient, community and/or health professional groups. While counseling supervision assists genetic counselors to be reflective about their clinical work and to enhance clinical skills, evaluation is a rather analogous process in the provision of education. Program evaluation of education activities can be applied to provide information about the needs of the target group (needs assessment), the delivery of the program (process evaluation) as well as determining the extent to which the education activity has met its intended aims (summative evaluation). Evaluation assists the educator to assess the impact of their program and provides an evidence base about genetics education. Although program evaluation can be a complex activity, the tools are ones that can be used by individuals to evaluate single or simple education activities. The components of evaluation are discussed with reference to genetic counseling practice and three very different examples of actual evaluations are provided to illustrate the diversity of evaluation strategy and programs to which it can be applied.