ClinGen- The Clinical Genome Resource– NEJM

DNAGenetic information is exploding with the availability of genetic tests from your doctor’s office, on your own from and multiple laboratories around the country. The article “ClinGen— The Clinical Genome Resource,” in NEJM May 2015 (you can read it here… ) shares several interesting and important points:

  • We now have over 5000 Mendelian genetic disorders documented
  • We have over 80 million genetic variants discovered in the human genome
  • The interpretation of the importance of the same variant by multiple clinical laboratories may differ


One challenge with genetic information in this exploding field is understanding the significance of the particular disorder or variant.

Of the 118,169 unique variants in this database with clinical interpretations, 12,895 (11%) have clinical interpretations that have been submitted by more than one laboratory. Of those, 2,229 (17%) are interpreted differently by the submitters. In the example given in this article, a patient with a family history of cardiomyopathy (a genetic potentially lethal heart condition) was initially told they did not carry the genetic variants that put them at risk, only later to find they actually did have risk as understanding and knowledge of genetic variants changed and improved.


“The ClinGen Phenotyping Working Group has chosen to use the Human Phenotype Ontology (”


My phenotype is what I look like or how the disease affects me. Doctors often work backwards from this to figure out what is going on with you. By linking phenotypes with genetic information, we will have a much deeper understanding of our health strengths and weaknesses when we know our genetic information.

My review of the links provided in this article, suggest that we are still in early phases of making our genetic information user friendly and accessible to the general public and doctors alike. ClinGen does provide a nice web site with links to many important genetic information organizations at:


I’m still fond of the reports and links to literature that are available when you download your data to Promethease, which “is a literature retrieval system that builds a personal DNA report based on the scientific literature cited in SNPedia and a file of genotype (DNA) data. Customers of DNA testing services (23andMe, FamilyTreeDNA,, Complete Genomics, …) can use it to retrieve published data about their DNA completely independent of whichever company produced the data.”


You can also generate reports by uploading your 23andme data to


Here are some useful links to the above article:

23 And Me

Promethease (SNPedia)


Dr. Paul






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