Cancer Risk Assessment Using Genetic Panel Testing: Considerations for Clinical Application
- PDF / 425,367 Bytes
- 14 Pages / 595.276 x 790.866 pts Page_size
- 73 Downloads / 161 Views
NEXT GENERATION GENETIC COUNSELING
Cancer Risk Assessment Using Genetic Panel Testing: Considerations for Clinical Application Susan Hiraki & Erica S. Rinella & Freya Schnabel & Ruth Oratz & Harry Ostrer
Received: 21 June 2013 / Accepted: 28 January 2014 # National Society of Genetic Counselors, Inc. 2014
Abstract With the completion of the Human Genome Project and the development of high throughput technologies, such as next-generation sequencing, the use of multiplex genetic testing, in which multiple genes are sequenced simultaneously to test for one or more conditions, is growing rapidly. Reflecting underlying heterogeneity where a broad range of genes confer risks for one or more cancers, the development of genetic cancer panels to assess these risks represents just one example of how multiplex testing is being applied clinically. There are a number of issues and challenges to consider when conducting genetic testing for cancer risk assessment, and these issues become exceedingly more complex when moving from the traditional single-gene approach to panel testing. Here, we address the practical considerations for clinical use of panel testing for breast, ovarian, and colon cancers, including the benefits, limitations and challenges, genetic counseling issues, and management guidelines. Keywords Cancer panels . Risk assessment . Breast cancer . Ovarian cancer . Colon cancer
Introduction The development of next-generation sequencing (NGS) has significantly reduced the cost and increased the efficiency of S. Hiraki (*) : H. Ostrer Department of Pathology, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Ullmann 819, Bronx, NY 10046, USA e-mail: [email protected] E. S. Rinella : F. Schnabel Department of Surgery, New York University Langone Medical Center, New York, NY, USA R. Oratz Department of Medicine, New York University School of Medicine, New York, NY, USA
gene sequencing, and the use of multiplex genetic testing is rapidly growing. Genetic cancer panels that assess risks of multiple different cancers and multiple different risk variants simultaneously are one example of how multiplex testing is being applied clinically. Cancer gene panels utilize this costeffective technology by sequencing numerous targets associated with cancer risk (Meldrum et al. 2011). There are a number of issues and challenges to consider when counseling for genetic cancer risks, and these issues become exceedingly more complex when moving from the traditional single-gene approach to panel testing (Multiplex genetic testing. The Council on Ethical and Judicial Affairs and American Medical Association 1998). Since technological advances seem to be outpacing the clinical considerations of panel testing, it is important to address these issues and identify gaps in our knowledge as the demand for such tests continues to grow. In this review of cancer gene panels, we sought to explore the issues pertaining to the development and provision of cancer panels. We first address how to determine the genes that should
Data Loading...
