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genetic disease
Also see genetic counseling.
Epidemiology:
- risk of developing a genetic disease declines with age [3]
Genetics:
1) autosomal dominant
a) multiple generations of affected individuals
b) both male & female affected
2) autosomal recessive
- siblings more likely to be affected than parents
3) X-linked recessive
a) only males affected
b) inheritance through mothers
4) X-linked dominant
a) half of male & female children of affected mothers will be affected
b) no affected male children of affected fathers
c) all daughters of affected fathers will be affected
d) some X-linked dominant conditions are fatal to males, so only females will survive
5) other factors
a) multiple affected individuals in multiple generations
b) occurrence of disease at early age
c) close degree of relatedness of affected relative
d) close biologic relationship between parents
e) presence of associated conditions
1] breast cancer
2] ovarian cancer
f) disease in the absence of other known risk factors
g) unusual presentation
1] bilateral breast cancer
2] breast cancer in males
Laboratory:
- genetic testing
a) prenatal genetic testing
b) preconception genetic testing
c) neonatal screening
- avoid genetic testing in other circumstances in unselected patient population
a) low predictive value of positive test
b) genetic labeling
- patients with possible inherited disease should be referred for genetic testing only in the context of genetic counseling [2]
Related
genetic counseling
genetic screening
Specific
ablepharon-macrostomia syndrome
channelopathy
congenital diarrhea
epigenetic disease
genetic disease of bone/skeletal system
genetic disease of connective tissue
genetic disease of muscle (inherited myopathy)
genetic disease of the auditory system
genetic disease of the blood/bone marrow
genetic disease of the cardiovascular system
genetic disease of the endocrine system
genetic disease of the exocrine function
genetic disease of the eye
genetic disease of the gastrointestinal tract
genetic disease of the gums; hereditary periodontal disease
genetic disease of the hair
genetic disease of the immune system
genetic disease of the kidney
genetic disease of the liver
genetic disease of the lung
genetic disease of the lymphatic system
genetic disease of the nervous system
genetic disease of the skin (genodermatosis)
genetic disease of the teeth
genetic disease of the urogenital system
genetic syndrome (multisystem disorder)
glutathione reductase deficiency
hyperornithinemia
idiopathic infantile arterial calcification; generalized arterial calcification of infancy
inborn error of metabolism
ossification of the posterior longitudinal ligament
pharmacogenetic disease
posterior column ataxia with retinitis pigmentosa (PCARP)
proliferative vasculopathy & hydranencephaly-hydrocephaly syndrome
tetra-amelia
transient familial neonatal hyperbilirubinemia
trinucleotide repeat expansion disease
X-linked disease
General
disease
References
- Medical Knowledge Self Assessment Program (MKSAP) 15, 16, 17
American College of Physicians, Philadelphia 2009, 2012, 2015
- Berg AO et al
National Institutes of Health State-of-the-Science Conference
Statement: Family History and Improving Health.
Ann Intern Med. 2009 Dec 15;151(12):872-7.
PMID: 19884615
- Jiang X, Holmes C, McVean G.
The impact of age on genetic risk for common diseases.
PLOS Genetics, 2021; 17 (8): e1009723
PMID: 34437535 PMCID: PMC8389405 Free PMC article
https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1009723