-
Article
Supporting teachers to use genomics as a context in the classroom: an evaluation of learning resources for high school biology
As genomics becomes embedded into healthcare, public genomic health literacy is critical to support decision-making for personal and family health decisions and enable citizens to engage with related social is...
-
Article
Oncologists’ perspectives of telephone genetic counseling to facilitate germline BRCA1/2 testing for their patients with high-grade serous ovarian cancer
Poly ADP ribose polymerase (PARP) inhibitors offer a survival advantage to women with high-grade serous ovarian cancer who have a germline BRCA1/2 pathogenic variant (PV). Yet, rates of genetic testing among this...
-
Article
A framework for youth-friendly genetic counseling
Young people represent a unique cohort in the context of both healthcare and genetic risk. Genetic counselors have long recognized and documented the challenges of working with young people and their families ...
-
Article
Open AccessClinical applications of polygenic breast cancer risk: a critical review and perspectives of an emerging field
Polygenic factors are estimated to account for an additional 18% of the familial relative risk of breast cancer, with those at the highest level of polygenic risk distribution having a least a twofold increase...
-
Article
Development and pilot testing of a leaflet informing women with breast cancer about genomic testing for polygenic risk
The inclusion of polygenic risk scores in breast cancer risk prediction models provides a more personalised and accurate prediction of breast cancer risk for women with and without breast cancer, who would oth...
-
Article
High-risk women’s risk perception after receiving personalized polygenic breast cancer risk information
Evidence is accumulating of the clinical utility of single nucleotide polymorphisms to effectively stratify risk of breast cancer. Yet for this personalized polygenic information to be translated to clinical p...
-
Article
Development and Pilot Testing of a Decision Aid for Genomic Research Participants Notified of Clinically Actionable Research Findings for Cancer Risk
Germline genomic testing is increasingly used in research to identify genetic causes of disease, including cancer. However, there is evidence that individuals who are notified of clinically actionable research...
-
Article
Making Sense of SNPs: Women’s Understanding and Experiences of Receiving a Personalized Profile of Their Breast Cancer Risks
Genome wide association studies have identified a number of common genetic variants - single nucleotide polymorphisms (SNPs) – that combine to increase breast cancer risk. SNP profiling may enhance the accurac...
-
Article
Open AccessThe PiGeOn project: protocol of a longitudinal study examining psychosocial and ethical issues and outcomes in germline genomic sequencing for cancer
Advances in genomics offer promise for earlier detection or prevention of cancer, by personalisation of medical care tailored to an individual’s genomic risk status. However genome sequencing can generate an u...
-
Article
Open AccessThe PiGeOn project: protocol for a longitudinal study examining psychosocial, behavioural and ethical issues and outcomes in cancer tumour genomic profiling
Genomic sequencing in cancer (both tumour and germline), and development of therapies targeted to tumour genetic status, hold great promise for improvement of patient outcomes. However, the imminent introducti...
-
Article
Consumer attitudes towards the establishment of a national Australian familial cancer research database by the Inherited Cancer Connect (ICCon) Partnership
Clinical genetics units hold large amounts of information which could be utilised to benefit patients and their families. In Australia, a national research database, the Inherited Cancer Connect (ICCon) databa...
-
Article
Open AccessPsychosocial and behavioral impact of breast cancer risk assessed by testing for common risk variants: protocol of a prospective study
The ‘common variant, common disease’ model predicts that a significant component of hereditary breast cancer unexplained by pathogenic variants in moderate or high-penetrance genes is due to the cumulative eff...
-
Article
Psychosocial morbidity in TP53 mutation carriers: is whole-body cancer screening beneficial?
Germline TP53 mutation carriers are at high risk of develo** a range of cancers. Effective cancer risk management is an important issue for these individuals. We assessed the psychosocial impact in TP53 mutatio...
-
Article
Timing and context: important considerations in the return of genetic results to research participants
General consensus exists that clinically significant germline genetic research results should be fed back to research participants. A body of literature is emerging about Australian research participants’ expe...
-
Article
Implementing a telephone based peer support intervention for women with a BRCA1/2 mutation
Women with a BRCA1/2 gene mutation face complex risk management decisions and communication issues that can lead to increased levels of distress and unmet needs. We describe the implementation of a peer-suppor...
-
Article
Large genomic rearrangements in the familial breast and ovarian cancer gene BRCA1 are associated with an increased frequency of high risk features
Large genomic rearrangements (LGRs) account for at least 10 % of the mutations in BRCA1 and 5 % of BRCA2 mutations in outbred hereditary breast and ovarian cancer (HBOC) families. Data from some series suggest LG...
-
Article
Unmet support needs and distress among women with a BRCA1/2 mutation
Distress levels among female BRCA1/2 mutation carriers can be similar to levels found among breast cancer patients. While psychological distress has been associated with unmet needs among cancer patients no study...
-
Article
Open AccessThe attitudes of people with sarcoma and their family towards genomics and incidental information arising from genetic research
The study aimed to examine attitudes of individuals diagnosed with sarcoma and their family members towards genetics, genomic research and incidental information arising as a result of participating in genetic...
-
Article
The consequences of risk reducing sal**o-oophorectomy: the case for a coordinated approach to long-term follow up post surgical menopause
Women with germline mutations in BRCA1 and BRCA2 genes have significantly increased lifetime risks of breast and ovarian cancer. To manage both the ovarian and breast cancer risks the current recommendation is un...
-
Article
Implications for cancer genetics practice of pro-actively assessing family history in a General Practice cohort in North West London
At present cancer genetics referrals are reactive to individuals asking for a referral and providing a family history thereafter. A previous pilot study in a single General Practice (GP) catchment area in Nort...
