Purpose of Review Neurofibromatosis types 1 and 2 (NF1 & NF2) are complex genetic diseases that provide challenges in diagnosis, monitoring, clinical management and genetic counselling. This review highlights these challenges and provides insight into the general and specialist management considerations.
Purpose of Review Genomic tests offer increased opportunity for diagnosis, but their outputs are often uncertain and complex; results may need to be revised and/or may not be relevant until some future time. We discuss the challenges that this presents for consent and autonomy.
Purpose of Review We discuss the current state of genomic testing for cancer in the UK, how this has been impacted by whole genome sequencing (WGS) and the 100,000 Genomes Project, along with approaches to reviewing whole genome analyses.
Purpose of Review Breast cancer is the most common cancer among females in developed countries. Strategies such as early detection by breast cancer screening can reduce the burden of disease but have disadvantages including overdiagnosis and increased cost. Stratification of women according to the risk of developing breast cancer, based on genetic and lifestyle risk factors, could improve risk-reduction and screening strategies by targeting those most likely to benefit.
(ICR: Institute of Cancer Research), Angela George (ICR: Institute of Cancer Research)
Purpose of Review The rise of routine integration of genetic testing into oncological pathways, through initiatives such as mainstream testing, is making it increasingly important for oncologists to understand more about the wider implications of inherited mutations in cancer susceptibility genes. This is vital to facilitate accurate information-giving by oncologists, taking informed consent for testing, and to ensure they are referring patients appropriately for risk reduction strategies such a...
Purpose of Review As the costs of genomic testing have fallen, and our understanding of genetic susceptibility to cancers has grown, there has been increasing interest in incorporating testing for cancer susceptibility genes, and polygenic risk estimates, into population cancer screening. A growing body of evidence suggests that this would be both clinically and cost-effective. In this article, we aim to explore the frameworks used to evaluate screening programmes, evaluate whether population sc...
Purpose of Review Rapid advances in the scope, affordability and clinical utility of genetic testing have driven significant change and expansion of the genetic counselling profession. Increasing volume, complexity and diversity of patients and their genomic data present a challenge. To manage this, examination of how genetic counsellors can adapt and thrive in the genomics era is warranted.
Purpose of the Review There has been a significant expansion in our knowledge of inherited endocrine neoplasia. This review describes syndromic and non-syndromic hereditary endocrine tumours, associated genetic testing, and progress in the management of the disease.