A+P: What is Medical Genetics? Flashcards
What is medical genetics?
The application of genetics to medical practice through the use of clinical geneticists, nurses & genetic counselors.
Medical genetics includes what services?
clinical services & laboratory testing.
List the Areas of Medical Genetics
- Prenatal
- Pediatric
- Adult
Who needs prenatal medical genetics?
Women concerned about a genetic problem or birth defect for their baby
Who needs pediatric medical genetics?
Children w/
- developmental delays
- dysmorphic facial features
- birth defect(s)
- sick often or not growing well
Who needs adult medical genetics?
ppl w/ a personal &/or FHx of
- CA
- psych conditions
- neuromuscular dz
- hemochromatosis
- blood clots
- CV problems
Prenatal Setting: Women are seen who have…
- an incr risk to have a baby w/ a chromosome abnormality or genetic condition
- an abnl prenatal screening test
- an abnl US finding
- a FHx of birth defect &/or genetic condition
- had a prenatal exposure
What is an US abnormality that can be seen on US?
cleft lip
Examples of prenatal exposures
- Fetal alcohol syndrome
- Fetal fentanyl exposure
Pediatric Setting: Children are seen who have…
- trouble growing &/or w/ their development
- intellectual disabilities, behavioral problems &/or learning problems
- a suspected or dx genetic condition
- birth defect(s)
What is an example of a condition that can be detected in the pediatric setting?
spina bifida
Adult Setting Cancer looks at
- breast/ovarian cancer
- colon cancer
Adult Setting neuromuscular looks at
- Huntington dz
- Parkinson dz
The adult setting of medical genetics includes what 4 areas?
- CA
- Neuromuscular
- CV
- Psych
Adult Setting CV looks at
- CAD
- Cardiomyopathy
Adult Setting Psychiatry looks at
- Schizophrenia
- Manic depression
Huntington Dz:
What is it?
Sx who at what age?
Death after onset?
- Degenerative brain disorder
- Sx usually b/t 30 & 50
- Death 15-20yrs after onset
Examples of genetic RFs
- Factor V Leiden mutation
- Prothrombin 20210A mutation
- PRO S deficiency
- PRO C deficiency
- Antithrombin III deficiency
- Dysfibrinogenemia
What symptoms are seen w/ Huntington’s Disease?
- Sx are both behavioral/emotional as well as physical
- involuntary movements, drunken gait
- depression, irritability, aggressive outbursts, social withdrawal, short term memory loss
Examples of environmental RFs
- Surg/Trauma
- CA
- DM
- Obesity
- Prolonged bedrest
- Pregnancy
- Estrogen therapy
- Oral contraceptive use
- HTN
- Smoking
- High Cholesterol
What are top 5 leading causes of death in the US?
- Heart dz: 702,880
- CA: 608,371
- Accidents (unintentional injuries): 227,039
- COVID-19: 186,552
- Stroke (cerebrovascular dz): 165,393
Types of genetic d/o
- chromosomal
- single-gene
- multifactorial
- mitochondrial
- environmental
- sporadic
- idiopathic
Describe chromosome d/o
disorders due to numerical or structural abnormalities.
Describe environmental d/o
- Infectious agents
- Meds & drugs
