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Clinical Genomics 101: 2018 Edition


The last twelve months have seen many advances within the field of genomics. The price of sequencing and analysis has continued to drop dramatically and accuracy gets better with each new iteration. Landmark achievements have been reached, such as Genomics England hitting the halfway point of their 100,000 Genomes Project and Edico Genome achieved a new world record for analysing 1,000 genomes in under 2.5 hours.

New technologies have been made available to help patients, including applying in vivo gene editing to a patient with Hunter syndrome and seeing two cancer gene immunotherapies win FDA approval. And, while all of this has been happening, research teams from around the world have been tirelessly identifying new genes and variants that have changed the way we think about different diseases.

The field of genomics has come a tremendous distance since the discovery of the structure of DNA in 1953 and it doesn’t appear as though our progress is likely to slow down anytime soon. While these developments and improvements are fantastic news for patients coping with genomic diseases, it can also be a struggle for researchers and clinicians to keep up to date with the latest news and technologies. To try to help catch you up with some of the biggest developments of the last twelve months, we’ve put together a brand new edition of the Clinical Genomics 101.

Last year, we produced the first edition of this guide to present you with an outline of what went into using genomic sequencing to help diagnose or treat patients. Now, we’re bringing you a new guide that has even more content than before and updates to account for everything that transpired in 2017.

This guide is designed to introduce you to how genomics is being integrated into the clinic, what goes into using a patient’s DNA to reach a diagnosis, and how this information can be communicated to primary care physicians. With help from our sponsors, we’ve done our best to present you with a clear, unbiased introduction to genomics in the clinic. We hope that you find this guide to be interesting and, most importantly, useful.


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