FREQUENTLY ASKED QUESTIONS FOR MEDICAL PROVIDERS
FREQUENTLY ASKED QUESTIONS FOR MEDICAL PROVIDERS
HOW DO MY PATIENTS GET ENROLLED IN AGHI ? Patients can be enrolled several ways . You can discuss the study with your patients and offer to connect them to the AGHI study participant recruitment team . A patient navigator will contact them to complete the consent and enrollment process . Patient navigators also can offer enrollment to patients scheduled for upcoming clinical appointments with a physician . Navigators may contact these patients by phone , email , or mail ahead of their scheduled appointment .
WHAT TYPE OF GENETIC TESTING IS BEING PERFORMED ? The primary care cohort of AGHI is utilizing a test called the Global Diversity Array ( GDA ), which looks for known genetic changes that impact health and disease risk . AGHI is analyzing data from the GDA to report results related to actionable disease risk and pharmacogenetics . AGHI continues to explore cutting-edge genetic testing technology and may expand to include different arrays that offer additional information on improving the care you provide to your patients .
HOW MUCH DOES AGHI TESTING COST ? Participation in AGHI is free . There is no cost associated with enrolling in the study and receiving genomic screening results . AGHI also provides a one-time pharmacogenetics consult service and genetic counseling at no cost to participants . Costs associated with routine medical care after disclosure of results from AGHI participation are not covered by AGHI .
HOW IS THE TESTING DIFFERENT FROM GENOME SEQUENCING ? Genome sequencing is a comprehensive genetic test that reads and analyzes all of the roughly 6 billion letters in a person ’ s genetic code . In contrast , the AGHI primary care cohort uses a genotyping test that looks specifically at certain places in the genome that have a known association with disease risk and medication response . Sometimes we use the example of reading an entire book to look for spelling errors ( genome sequencing ) versus spot-checking a few pages ( genotyping ).
HOW IS THE TESTING DIFFERENT FROM GENE PANEL TESTS ( I . E . HEREDITARY CANCER GENE PANEL )? AGHI disease risk testing is a screening test , looking for and reporting known disease-causing genetic changes in a set of medically actionable genes . While these genes may overlap with genes found on diagnostic gene panels for cancer or other indications , the AGHI test should not be used as a replacement for diagnostic genetic testing based on a patient ’ s personal or family history . A diagnostic gene panel may be able to detect more diseasecausing gene changes , including novel and uncertain variants .
WHAT TYPE OF DISEASE RISKS CAN BE IDENTIFIED BY THIS TEST ? Participants ’ DNA samples are analyzed for variants in genes associated with actionable diseases . The term “ actionable ” means that a certain action can be taken in terms of medical care to lower the chance of developing that disease in the future . It is possible that the list of genes analyzed may change in the future and that new genes may be added . The list will reflect the current ACMG secondary finding gene list . Most of the genes are associated with either a hereditary form of cardiovascular disease or cancer risk . Cardiovascular diseases include cardiomyopathy , heart rhythm disorders , arrhythmia , arteriopathy , and hypercholesterolemia . Cancer risks include a predisposition for breast , ovarian , colon , thyroid , and many other types of cancer .
Other genes included in the screening are associated with malignant hyperthermia , an adverse reaction to certain anesthesia , as well as several other rare genetic diseases . In the course of testing , it ’ s also possible that the AGHI team will identify a gene variant believed to be medically actionable that is not on the current list of genes . These results may be reported by AGHI if the study team determines that there is sufficient evidence for pathogenicity and medical actionability .
HOW COMPREHENSIVE IS THE TESTING , AND SHOULD IT BE OFFERED TO PATIENTS WITH A POSSIBLE FAMILY OR PERSONAL HISTORY OF A GENETIC DISORDER ? The AGHI test screens for common and well-understood genetic variants , but it does not detect all possible pathogenic variants in these genes . It also does not test for all genes known to increase the risk for conditions such as cancer or cardiovascular disease . Therefore , patients thought to be at increased risk of a genetic condition should have standard clinical genetic testing rather than being tested for these conditions through AGHI .
22 Alabama Genomic Health Initiative Annual Report 2021