The NIH’s All of Us Program is reaching out to those who have been underrepresented in medical research. The project has been heralded as a “major milestone.”

In addition, the program is now returning over results to more than 155,000 people. The participants will be notified if they are at risk of specific health conditions or possible responses to medications.

The UK also has genomic programs underway. This week it announced a major effort toward research in genomics used in clinical applications. A government entity called Genomics England handles the United Kingdom’s one hundred thousand genomes project. The company will direct projects that involve screening newborns as well as cancer diagnoses.

By definition, a genome project is a field of biology that focuses on the function, structure, evolution, and editing of genomes. Whereas the genome is the complete set of genetic information in an organism. Details on genome sequencing can be found here.

All of Us plans to expedite breakthroughs by recruiting approximately one million individuals for sequencing. The participants will reflect diversity for sequencing in the United States.

Communities that historically have not participated in these programs will now be represented. Estimates are that they will total about eighty percent of the entire group. It is also estimated that about fifty percent of participants are of ethnic or racial minority communities.

Dr. Josh Denny, the program CEO, suggested that by working with DNA information that is health-related, the programs can work both ways. Both personal and scientific discovery would help people participate in their own well-being and quality of life.

Since the inception of the project in 2020, over 175,000 people have received trait and genetic ancestry results. Approximately six thousand additional results are returned each month.

Research conducted by other groups suggests that by informing participants of their disease risk variants, people will be made aware and be more proactive.

The project participants provided blood samples and gave their consent to receive genomic data. They are free to accept or decline the results. Participants may meet with genetic counselors to discuss their results.

As part of the program, the American College of Medical Genetics and Genomics (ACMG) provides recommendations that include fifty-nine genes and variants relating to serious health conditions that are medically actionable.

Project researchers expect to find between two to three percent of disease-causing (pathogenic) or likely to be disease-causing variants during the screening. The genes are usually connected to heart conditions, certain cancers, blood disorders, or other conditions.

If a participant’s tests indicate the possibility of a severe health condition, then a clinical DNA test by Color Health, the program’s genetic counselor, will be offered at no cost.

Program participants may receive a Medicine and Your DNA report with seven genes known to affect the genetics of the body’s reaction to drugs.

In summary, All of Us works in conjunction with a consortium of partners in the U.S. to collect data and DNA samples from, but not limited to, electronic health records, surveys, wearable devices, and physical measurements.