Basics of Genetic Counseling
What is the primary role of a genetic counselor?
Providing information and support about genetic conditions.
Which genetic condition, caused by an extra chromosome 21, is one of the most well-known chromosomal disorders?
Down syndrome.
Genetic counselors specializing in which area focus on diagnosing and managing inherited cancers?
Cancer genetics.
Which tool is used to help visualize inheritance patterns in families, often displayed in a standardized format?
Pedigree chart.
What is our club's full name?
Pre-Genetic Counseling Society at Stony Brook University
In which decade did genetic counseling become an established profession?
The 1970s.
Which autosomal recessive disorder leads to thick mucus production and affects the lungs and digestive system?
Cystic fibrosis.
Which specialization deals with genetic disorders that affect children, such as metabolic and developmental disorders?
Pediatric genetics.
What is the term for an interview conducted to gather comprehensive information about a patient's medical and family history?
Genetic counseling intake interview.
What is our email and Instagram handle?
Email: Sbupregc@gmail.com
Instagram: @sbupre_gc
Genetic counselors work closely with which professionals to provide patient care?
A variety of healthcare professionals, including primary care physicians, oncologists, neurologists, and more
What autosomal dominant disorder results in the progressive breakdown of nerve cells in the brain, leading to movement, cognitive, and psychiatric disorders?
Huntington's disease.
Which branch of genetic counseling helps individuals and families affected by neurodegenerative diseases?
Neurogenetics.
What term refers to the documentation of a patient's consent to undergo genetic testing and counseling?
Informed consent.
When are our GBMs?
Every other Wednesday at 6:30!
What kind of professional degree do genetic counselors typically hold?
Master’s in Genetic Counseling (MS or MGC)
What genetic disorder, often called brittle bone disease, is caused by defects in collagen production, leading to fragile bones?
Osteogenesis imperfecta.
Which specialization focuses on the genetic basis of rare conditions, including those with unique inheritance patterns, such as mitochondrial disorders?
Rare disease genetics.
Which statistical method helps calculate the likelihood of inheriting genetic traits?
Punnett square.
When is Rare Disease Day?
February 28th or 29th on leap years! (The rarest day of the year) Join us in February for a celebration!
What family health pattern often leads individuals to seek genetic counseling?
A strong family history of cancer or inherited conditions.
Which genetic disorder is caused by a mutation in the HBB gene, leading to abnormal hemoglobin and red blood cell destruction?
Sickle cell disease.
Genetic counselors in this field work with individuals at risk for familial hypercholesterolemia and other inherited lipid disorders.
Cardiovascular genetics.
What type of counseling session often involves discussing the implications of genetic test results with patients and their families?
Post-test genetic counseling.
Name something you learned today!
:)