January 19, 2021 (Huntsville, Al -Ala) – Access to Clinical Genomic Testing and the increase in cheapness has shown miracles for the rare diagnosis of the disease. The genomic layout has been well formed as a useful diagnostic tool for patients with abnormal genetic diseases. However, access to genomic testing, and its utility in diagnosing and predicting the disease, is not widely available throughout our country.
Alabama Genomic Health Initiative
A group of researchers, physicians, genetic advisers and biometricists from the Birmingham (UAB) at the Hudsnalifa Institute for Biotechnology and the University of Alabama tried to remove this barrier to access to genocomary literacy and services across the state. Alabama Genomic Health Initiative (AGHI), which was launched in 2017, is an effort across the state to use the power of genomic analysis to find the answers to children and adults with unconstitutional development and medical challenges, and to identify those who are more likely to identify the future.
The program is a cooperation between Hudsenelifa and Alabama University in Birmingham (UAB), which is provided by the State of Alabama and is headed by Bruce Corf, MD, PhD (UAB), Greg rain, MD, PhD (Hudsanalifa), and Mathew. AGHI provides genetic testing, interpretation and consultation free to residents of Alabama. The target of this program is to include at least 10,000 albencies in genetic testing, while participants are to inform their genital health.
“The PhD,” says, “is helping to improve the care of patients, not only by giving diagnosis, but also giving the general public a basic understanding of the importance and value of their genomic health.” “Through the start platform, we are eligible to provide an invaluable opportunity to physicians and geneticists to confirm or identify the diagnosis that has been diagnosed despite a wide range of previous medical examinations.”
Provides healthy information to the next participants
To date, the results of the AGHI study were recently published in genetics in Medicine. The state involves two separate groups of participants in the state of Alabama: children and adults suffer from an undefeated rare disease, and adults in the general population, which have no significant personal or family history of genetic condition. The published data reflects the first 176 rare disease participants and 5369 participants in the population screening group.
Participants were recruited at places across the state, including Madison, Jefferson, Montgomery, Mobile and Baldone County. He provided a small blood sample as well as information about his personal and family health history. The DNA was removed from a blood sample and analyzed. Participants of the Population Screening Group received a gene typing test, while participants in the rare disease group obtained the genome setting. The gene typing tests look at a different type of group that is known to increase the chances of a person’s disease, while the complete genome sequence is visible on each letter of the genetic code. (Learn more about differences in gene typing and genome continuity.)
All the participants received a report that summarized the results of their tests. Individuals whose results include viable results were quoted as a genetic consultation and proper medical care.
“We talk to participants by phone by phone,” says Whitley Kelly, co -author of genetic adviser Hudsnalifa. “During these conversations, we explain what is meant to have a genetic risk factor using a clear language, unlike some more technical data that may include their results. Then we provide recommendations for clinical resources that prevent their next stages and manage their health and manage their health. For. “
In the rare disease group, among the 176 affected people, thirty -five (19.9 %) achieved a pathogenic or potential pathogenic result, which means that the genetic format is found to be the disease. In addition, forty -two people (23.9 %) got an uncertain result, which means that a genetic variation was found that is not well understood, but it can be helpful in the disease. New genetic knowledge, combined with the individual’s symptoms, often allows doctors to diagnose a disease that has not been discovered for months or years.
“Being able to provide answers to individuals and their families who have been infected with rare disease that may not be able to access the genome sequence, which may not be able to access the genome sequence, is an important achievement,” says Hudsanlifa’s genetic adviser co -author Kelly East. “We hope that the AGHI model can help to inform similar programs elsewhere so that more communities can be aware and access to genomic testing.”
To date, 5,369 people, who represent all 67 Alabama county, have been admitted to the next population screening group. The results of the 80 people (1.5 %) were identified as the population with the population. These results include hereditary cancer, cardiomopathy, deadly hypertension, and hypercalolasolium riscs increases. These results were described in a similar post in genetics in medicine, highlighting the results of population -based genomic screening.
About Hudsnalafa: The Hudsenalifa Institute for Biotechnology is a non -profit institute dedicated to developing and applying scientific progress in health, agriculture, learning and commercialization. Opened in 2008, the vision of Hudsenelifa is to take advantage of the harmony between discovery, discovery, education, medicine and economic development in genomic sciences to improve the humanitarian condition worldwide. The Hudsanlifa Biotechnology Campus contains 152 acres, located inside the country’s second largest research park, within the Cummins Research Park. The latest facilities share non -profit scientific researchers with businessmen and teachers. Hudsinlifa has become a national and international leader in genetics and genomics research and biotech education and promotes more than 40 diverse biotech companies on campus. See Hudsonalpha.org more information about Hudsnalifa.
Media Contact: Marjetta Thomas
mthomas@hudsonalpha.org
256-937-8210