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April 2022

Clinical Update: 

Complete Sequence of the Human Genome Published


This month in Science,1 the most complete sequence of the human genome ever was published by the Telomere-to-Telomere Consortium funded by the National Institute of Health’s Intramural Research Program of the National Human Genome Research Institute. They presented a complete 3.055 billion base-pair sequence, which included gapless assemblies for all chromosomes except Y. The previous reference genome only covered euchromatic, leaving some heterochromatic regions incomplete. 

The newly published sequence includes 200 million more base pairs and 1956 gene predictions, of which 99 could be protein coding. Completing the sequence is vital to unlocking how our genome affects our health and understanding how we are predisposed to disease.

1)  Nurk S, Koren S, Rhie A, et al. The complete sequence of a human genome. Science. 2022;376(6588):44-53. doi:10.1126/science.abj6987


Enroll your Practice in GH-101!

Genetics Institute of America is actively recruiting practices to join our study, GH-101! The objective of this study is to take an integrative approach to the fields of pharmacogenomics, cancer genomics, mRNA microarrays and nutrigenomics by identifying DNA and RNA variants in persons with chronic disease. We are looking for Physicians and Physician Groups that currently treat patients with a chronic disease including: cancer, cardiac conditions, diabetes, kidney disease, PTSD. Getting your practice involved is easy and not only gets patients the individualized health information they need but allows your practice to be on the cutting edge of genetic research. Click "Enroll Now" for more information about this study and enrolling your practice.


Have you Seen This?: 

Hereditary Predisposition to Ovarian Cancer


According to the National Comprehensive Cancer Network (NCCN), all ovarian cancer patients should receive a hereditary cancer panel that includes high penetrance genes.

It's All in the Genes:

Germline Testing for Breast Cancer Survivors


A new study from the Royal Marsden Hospital in London found that approximately 65% of breast cancer patients that qualified were not offered germline testing.

Changing Corporate Culture:

Bringing JOY Every Day

Genetics Institute of America believes that it is our responsibility to care for the community we are a part of, and that corporate culture can do more to play a greater role in community solutions.


Thank you for the trust and confidence you have placed in our team here at the Genetics Institute of America. This monthly newsletter is our primary method of communicating to you important information about our testing and assays, general information about the Genetics Institute, as well as information impacting patient care and safety. If you would like to have another person in your practice receive these updates, please forward this to them so that they can subscribe.


Ana Perez-Miranda, PhD, MDxT (AAB), MB (ASCP)

Laboratory Manager and Molecular Diagnostics Supervisor

Genetics Institute of America


GIA Lab News is an educational service of Genetics Institute of America.

Genetics Institute of America is a national laboratory dedicated to heightening the awareness of early intervention and genetic screening to promote the longevity and quality of life outcomes. Our determination and research allow us to provide next generation DNA sequencing to deliver customized testing for identified genetic related cancers and other diseases.

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