For the public

FAQ

Discover what impact Genomics has to Society and Human Health

introductory radio interview

introductory radio interview

LA SUISSE SE DOTE DE SON PREMIER CENTRE DE GÉNOMIQUE

Jacques Fellay | CHUV | EPFL

CQFD 11.05.2017

frequently asked questions

frequently asked questions

Ressources

Ressources

If you have any specific or general questions not answered by our FAQ, don't hesitate to contact us directly.

Genetics versus Genomics, what is the difference?

Genetics and genomics both play roles in health and disease. Genetics refers to the study of genes and the way that certain traits or conditions are passed down from one generation to another. Genomics describes the study of all of a person's genes (the genome).

What is Genomic Medicine?

Genomic medicine is an emerging medical discipline that involves using genomic information about an individual as part of their clinical care (e.g. for diagnostic or therapeutic decision-making) and the health outcomes and policy implications of that clinical use. Already, genomic medicine is making an impact in the fields of oncology, pharmacology, rare and undiagnosed diseases, and infectious disease.

What is DNA?

DNA is the molecule that contains the genetic code of organisms. This includes animals, plants, protists, archaea and bacteria.

Deoxyribonucleic acid (DNA) is the chemical compound that contains the instructions needed to develop and direct the activities of nearly all living organisms. DNA molecules are made of two twisting, paired strands, often referred to as a double helix Each DNA strand is made of four chemical units, called nucleotide bases, which comprise the genetic "alphabet." The bases are adenine (A), thymine (T), guanine (G), and cytosine (C). Bases on opposite strands pair specifically: an A always pairs with a T; a C always pairs with a G. The order of the As, Ts, Cs and Gs determines the meaning of the information encoded in that part of the DNA molecule just as the order of letters determines the meaning of a word.

What is DNA sequencing?

Sequencing simply means determining the exact order of the bases (A, T, G and C) in a strand of DNA. Because bases exist as pairs (A-T and G-C), and the identity of one of the bases in the pair determines the other member of the pair, researchers do not have to report both bases of the pair.

Researchers can use DNA sequencing to search for genetic variations and/or mutations that may play a role in the development or progression of a disease. The disease-causing change may be as small as the substitution, deletion, or addition of a single base pair or as large as a deletion of thousands of bases.

What is Whole Genome Sequencing?

Whole-genome sequencing (WGS) is the analysis of the entire genomic DNA sequence of a cell at a single time, providing the most comprehensive characterization of the genome.

What is Exome Sequencing?

Exome sequencing is an extremely efficient way to screen the entire genome when there is clearly a familial condition based upon multiple affected individuals, and especially if a gene has not yet been identified for the condition or if the condition is so genetically heterogeneous that the number of possible genes is large (e.g. intellectual disability or autism).

What is the difference between precision medicine and personalized medicine?

There is a lot of overlap between the terms "precision medicine" and "personalized medicine." According to the National Research Council, "personalized medicine" is an older term with a meaning similar to "precision medicine." However, there was concern that the word "personalized" could be misinterpreted to imply that treatments and preventions are being developed uniquely for each individual; in precision medicine, the focus is on identifying which approaches will be effective for which patients based on genetic, environmental, and lifestyle factors. The Council therefore preferred the term "precision medicine" to "personalized medicine." However, some people still use the two terms interchangeably.

What about pharmacogenomics?

Pharmacogenomics is a part of precision medicine. Pharmacogenomics is the study of how genes affect a person’s response to particular drugs. This relatively new field combines pharmacology (the science of drugs) and genomics (the study of genes and their functions) to develop effective, safe medications and doses that are tailored to variations in a person’s genes.

Sources: NIH – National Human Genome Research Institute, IASLC Thoracic Oncology (Second Edition), 2018, Neuromuscular Disorders of Infancy, Childhood, and Adolescence (Second Edition), 2015 and  U.S. National Library of Medicine

news & events

news & events

Genomic medicine gets closer to the clinic

The Health 2030 Genome Center (Genome Center) has obtained a major accreditation extension for human genome sequencing...

Meet the Genome Center at the European Society of Human Genetics!

The annual meeting of the European Society of  Human Genetics (ESHG)  brings together scientists and health care...

Image: Copyright Julien Gregorio/HUG

Hunt for the genome of SARS-CoV-2 variants goes on in Switzerland

The Swiss National SARS-CoV-2 Genomic Surveillance Program introduced in May 2021 by the Federal Office of Public...

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