Cure Alveolar Soft Part Sarcoma International (iCureASPS)

Genomics versus Genetics: What's The Difference?

In discussions about genetic testing, the terms "genetics" and "genomics" often get tossed around interchangeably. But they aren't the same thing. Genetics usually refers to the study of specific, individual genes and their role in inheritance. This area of research has helped identify the genes involved in a number of relatively rare genetic disorders and has led to the ability to diagnose and screen for some of those disorders. The study of genetics has been with us for a long time, ever since an Austrian monk named Gregor Mendel traced heritable traits in his pea plants in the 1800s. Major findings in the 20th century concerned "monogenic" diseases such as sickle cell anemia and cystic fibrosis, caused by an error in a single gene.

Genomics is More Complex

Genomics, on the other hand, is more complex and usually refers to an organism's entire genetic makeup, which is called a genome. In addition, the study of genomics includes understanding how the genome interacts with environmental or non-genetic factors, such as a person's lifestyle. This new area of science has the potential to improve our understanding of complex diseases such as diabetes, heart disease, and asthma, as well as improve medical treatment.

Unlike monogenic diseases, most of the conditions that affect large groups of people, such as cancer, diabetes, and cardiovascular disease, are more complicated. These diseases are caused by variations in more than one gene or by multiple genes interacting with each other and the environment. Testing for and treating complex diseases presents challenges, but genomics can help. This new science, emerging with the mapping of the human genome in 2003, focuses on all of the genes and genetic material as a dynamic system. Ultimately, by understanding how genes interact with non-genetic factors over which people have control, such as diet, exercise, and smoking, we may one day be able to prevent some complex diseases.

Advances in sarcoma genomics and new therapeutic targets

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3361898/

The clinical relevance of molecular genetics in soft tissue sarcomas

http://www.ncbi.nlm.nih.gov/pubmed/20418671

46 gene sequencing test for cancer patients on the NHS

25 Mar 13


Illustration of a DNA molecule

The first multi-gene test that can help predict cancer patients' responses to treatment using the latest DNA sequencing techniques has been launched in the NHS, thanks to a partnership between scientists at the University of Oxford and Oxford University Hospitals NHS Trust.


http://www.ox.ac.uk/media/news_stories/2013/130325.html

Molecular profiling for precision cancer therapies



Abstract

The number of druggable tumor-specific molecular aberrations has grown substantially in the past decade, with a significant survival benefit obtained from biomarker matching therapies in several cancer types. Molecular pathology has therefore become fundamental not only to inform on tumor diagnosis and prognosis but also to drive therapeutic decisions in daily practice. The introduction of next-generation sequencing technologies and the rising number of large-scale tumor molecular profiling programs across institutions worldwide have revolutionized the field of precision oncology. As comprehensive genomic analyses become increasingly available in both clinical and research settings, healthcare professionals are faced with the complex tasks of result interpretation and translation. This review summarizes the current and upcoming approaches to implement precision cancer medicine, highlighting the challenges and potential solutions to facilitate the interpretation and to maximize the clinical utility of molecular profiling results. We describe novel molecular characterization strategies beyond tumor DNA sequencing, such as transcriptomics, immunophenotyping, epigenetic profiling, and single-cell analyses. We also review current and potential applications of liquid biopsies to evaluate blood-based biomarkers, such as circulating tumor cells and circulating nucleic acids. Last, lessons learned from the existing limitations of genotype-derived therapies provide insights into ways to expand precision medicine beyond genomics.

https://genomemedicine.biomedcentral.co ... 703-1#Tab1