Genetic counselors are involved in many areas of genetic testing, including:
- Molecular genetics and genomics
Sequencing and large deletion/duplication analysis for single gene and large multigene panels. Examples include cystic fibrosis carrier screening, testing for hereditary breast and ovarian cancer predisposition, and exome sequencing to determine the cause of a condition that is believed to be genetic but has defied diagnosis up to this point.
- Biochemical genetics
Biochemical profile testing for genetic disorders (e.g., newborn screening, metabolic disorders, PKU).
Chromosome analysis FISH (fluorescent in situ hybridization), and genomic microarray to detect chromosomal disorders (e.g., Down syndrome, DiGeorge syndrome).
- Maternal serum screening
Genetic marker testing using a pregnant mother’s blood to provide information on the chances the fetus may be affected (e.g., neural tube defects).
- Non-invasive prenatal screening (NIPT, NIPS)
Testing cell-free fetal DNA circulating in a pregnant mother’s blood to provide information on the chances the fetus may be affected (e.g., Down syndrome).
What role do ARUP’s genetic counselors play in cancer-related tests?
Our counselors are involved with all testing that involves hereditary genetics—what you are born with, not something you acquire. Note: cancer is something you acquire, so ARUP’s genetic counselors are not involved in cancer testing done directly for the cancer itself (e.g., tumor testing); however, they are involved in tests used to detect a hereditary predisposition to certain cancers (e.g., breast cancer susceptibility genes, BRCA1 and BRCA2).
Our Service Mission
Our mission is to improve patient care by supporting development, management and appropriate utilization of genetic testing. We use our clinical expertise and laboratory knowledge to encourage optimal testing strategies, provide education and consultation related to genetic testing, and facilitate effective communication with clients, clinicians, and colleagues. We strive to further these principles through professional and academic contributions in the genetics and healthcare communities.
Genetic Counseling in Action
Our genetic counseling team uses their experience and expertise to help you navigate and understand different testing options and patient scenarios.
- What Is It Like Working as A Genetic Counselor for a Large Laboratory?
- Spit. Wait. Results. What Do You Need to Know About Your Online Genetic Test Results?
- Prenatal Screening and NIPT: Ratcheting Up the Sensitivity
- Focusing on the Needle or the Haystack: General versus Specific Genetic Testing Strategies
- Signs of Skeletal Dysplasia During Pregnancy: A New Prenatal Test May Provide Answers