Basic Tools to Begin Integrating Genetics and Genomics into Medical Practice Flashcards
What is the difference between genetics and genomics?
Genetics - the study of genes and their role in inheritance (i.e. a certain gene causes a pathology)
Genomics - the study of all an individual’s genes, including how these genes interact with the environment
What is the number one diagnostic tool for genomic disease? How often should it be updated?
Family history, there should be frequent, periodic re-evaluation
How does family history interplay with testing?
Helps identify people who are at an increased risk for specific disorders who may be the best candidates for testing
Why is early identification of a genetic predisposition important via family history?
Can help improve, delay, or prevent adverse outcome
In what order are siblings listed on a pedigree?
Left to right: oldest to youngest
Who is considered the consultant for a pedigree and how are they indicated?
Person providing the information -> designated by the arrow
Who is the proband?
The affected person who brought the family to medical attention, designated by a shaded symbol
How many generations should be collected for a pedigree?
At least 3
What is considered a first, second, and third degree relative? How many shared genes do they have?
First degree: Within 1 generation up or down: 50%, i.e. siblings, parents
Second degree: Within two: 25% - i.e. uncles, grandparents
Third degree: Within three: 12.5% - i.e. cousins
How related is a half brother or sister?
Second degree relative: 25% shared genes
Why is age at diagnosis relevant?
Younger = genetic cause of disease more likely
What is consanguinity?
Parents are related via blood (1st or 2nd cousins)
What is a targeted vs a general question?
General: Asking about a cause of death, ethnic background, etc
Targeted: If investigating diabetes, asking about risk factors in patients (i.e. high cholesterol, smoker, HTN)
How many pregnancy losses is considered a “red flag”?
3 or more by an individual or couple
What are some red flags for an individual having a genetic disorder?
- Dysmorphic features
- Developmental or learning delay
- Movement disorders / seizures
- Congenital blindness / deafness
- Short stature
- Unexplained infertility
- MULTIPLE MEDICAL PROBLEMS THAT SEEM UNRELATED
What is a clinical geneticist?
Board certified physician who provides diagnostic, management, treatment, risk assessment, and genetic counseling.
What is a genetic counselor?
Master’s program health professional who assists people in understanding and adapting to their familial genetic disease
What is a clinical genetics laboratory specialist?
I.e. cytogeneticist, molecular geneticist, they are PhD, MD, or DO and provide genetic testing for a variety of conditions in a lab
What is a medical biochemical geneticist?
Physicians who specialize in treatment of patients with inborn errors of metabolism
What are some examples of single gene / chromosomal, major gene multifactorial, and complex multifactorial genetic diseases?
Single gene - Down’s syndrome
Major gene multifactorial - Hypercholesteremia
Complex multifactorial - Diabetes T2
Is it important for physicians to know why ethnic groups are more susceptible to genetic disease, as well as the social, legal, and ethical issues around it?
Yes
