Improving Lynch syndrome detection: a mixed-methods process evaluation of a hybrid type III effectiveness-implementation trial.

Introduction: Translating evidence-based practices into real-world healthcare settings is challenging, particularly in the rapidly evolving field of genomics. A pragmatic two-arm cluster-randomized clinical trial (Hide and Seek Project - HaSP) tested two implementation approaches for improving hereditary cancer referral practices with one key distinction: implementation strategies that were designed 1) explicitly using psychological theory, or 2) using healthcare professional intuition. This mixed-methods process evaluation aimed to provide insights into how and why change occurred by examining contextual determinants, identifying mechanisms of action, and exploring the role of theory.

Cancer genetic counseling via telegenetics and telephone: A qualitative study exploring the experience of patients and genetic counselors in an Australian cancer genetics context.

The demand for direct-to-patient (DTP) telegenetics (genetics services delivered via videoconferencing) in genetic counseling practice has rapidly increased, particularly since the COVID-19 pandemic. Recent telegenetics literature is mostly quantitative and not in the Australian context. A qualitative interview study was conducted to address this gap.

A survey of genetic and palliative care health professionals' views of integrating genetics into palliative care.

Genetic counselling and testing have utility for people with palliative care needs and their families. However, genetic and palliative care health professionals have described difficulties initiating palliative-genetic discussions. Between March and July 2022, we received n = 73 surveys (6% response rate) from genetic and palliative care health professionals in Australia and New Zealand that assessed and compared barriers and facilitators.

Update of penetrance estimates in Birt-Hogg-Dubé syndrome.

Background: Birt-Hogg-Dubé (BHD) syndrome is a rare genetic syndrome caused by pathogenic or likely pathogenic germline variants in the gene. Patients with BHD syndrome have an increased risk of fibrofolliculomas, pulmonary cysts, pneumothorax and renal cell carcinoma. There is debate regarding whether colonic polyps should be added to the criteria.

Heritable defects in telomere and mitotic function selectively predispose to sarcomas.

Cancer genetics has to date focused on epithelial malignancies, identifying multiple histotype-specific pathways underlying cancer susceptibility. Sarcomas are rare malignancies predominantly derived from embryonic mesoderm. To identify pathways specific to mesenchymal cancers, we performed whole-genome germline sequencing on 1644 sporadic cases and 3205 matched healthy elderly controls.

Comparing cancer genetic counselling using telegenetics with in-person and telephone appointments: Results of a partially randomised patient-preference pilot study.

Introduction: Direct-to-patient telegenetics, which uses video conferencing to connect health professionals directly to patients' devices, has been widely adopted during the pandemic. However, limited evidence currently supports its use in cancer genetic counselling.

Methods: Before the pandemic, we conducted a two-arm partially randomised patient-preference pilot trial to evaluate direct-to-patient telegenetics for patients and genetic counsellors.

Lynch syndrome testing of colorectal cancer patients in a high-income country with universal healthcare: a retrospective study of current practice and gaps in seven australian hospitals.

Background: To inform effective genomic medicine strategies, it is important to examine current approaches and gaps in well-established applications. Lynch syndrome (LS) causes 3-5% of colorectal cancers (CRCs). While guidelines commonly recommend LS tumour testing of all CRC patients, implementation in health systems is known to be highly variable.

Psychological predictors of advanced cancer patients' preferences for return of results from comprehensive tumor genomic profiling.

This study assessed the psychological predictors of preferences for return of comprehensive tumor genomic profiling (CTGP) results in patients with advanced cancers, enrolled in the Molecular Screening and Therapeutics Program. Patients completed a questionnaire prior to undergoing CTGP. Of the 1434 who completed a questionnaire, 96% would like to receive results that can guide treatment for their cancer, and preference for receiving this type of result was associated with lower tolerance of uncertainty.

Pilot study of an online training program to increase genetic literacy and communication skills in oncology healthcare professionals discussing BRCA1/2 genetic testing with breast and ovarian cancer patients.

The increasing use of genetic testing for BRCA1/2 and other pathogenic variants in the management of women with breast and ovarian cancer necessitates increased genetic literacy in oncology healthcare professionals. This pilot study aimed to evaluate an online training program to increase genetic literacy and communication skills in Australian oncology healthcare professionals tasked with discussing and coordinating mainstream genetic testing with breast and ovarian cancer patients. A training website with embedded videos was developed.

Helping young children understand inherited cancer predisposition syndromes using bibliotherapy.

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.

Family communication about genomic sequencing: A qualitative study with cancer patients and relatives.

Objective: This study explored family communication about undertaking genomic sequencing, and intentions to communicate pertinent heritable results to family members.

Methods: Semi-structured interviews were conducted with cancer patients (n = 53) and their relatives (n = 20) who underwent germline genome sequencing or molecular tumor testing. Interviews were audio-recorded, transcribed and analyzed using thematic analysis.

Advanced cancer patient preferences for receiving molecular profiling results.

Objective: This study aimed to discern preferences for receiving somatic molecular profiling (MP) results in cancer patients who have given consent to undergo testing.

Methods: We conducted a mixed-methods study to explore patients' views on which MP results they would like to receive and why. Advanced cancer patients (n = 1299) completed questionnaires after giving consent to participate in a parent genomics study and undergoing MP.

Cancer screening in Australia: future directions in melanoma, Lynch syndrome, and liver, lung and prostate cancers.

While Australia now has well-established national screening programs for breast, bowel and cervical cancers, research continues into the feasibility of developing systematic screening programs for a number of other cancers. In this paper, experts in their fields provide perspectives on the current state of play and future directions for screening and surveillance for melanoma, Lynch syndrome, and liver, lung and prostate cancers in Australia. Although the evidence does not support population screening, there may be opportunities to prevent thousands of deaths through systematic approaches to the early detection of lung cancer and melanoma, testing for Lynch syndrome, and organised surveillance for hepatocellular carcinoma among individuals at high risk - guided by targeted research.

Comparing theory and non-theory based implementation approaches to improving referral practices in cancer genetics: a cluster randomised trial protocol.

Background: Lynch syndrome (LS) is an inherited, cancer predisposition syndrome associated with an increased risk of colorectal, endometrial and other cancer types. Identifying individuals with LS allows access to cancer risk management strategies proven to reduce cancer incidence and improve survival. However, LS is underdiagnosed and genetic referral rates are poor.

Author Correction: Therapeutic implications of germline genetic findings in cancer.

The originally published article contained errors in the main text and in figure 1 in the reported number of patients with pathogenic or likely pathogenic germline variants. The originally reported numbers did not take into account the presence of more than one variant in an individual patient. This has been corrected in the HTML and PDF versions of the manuscript.

Therapeutic implications of germline genetic findings in cancer.

Cancer is a genetic disease. To date, translational cancer genomics has focused largely on somatic alterations, driven by the desire to identify targets for personalized therapy. However, therapeutically relevant information is also latent within the germline genome.