Ethics - Genomics Flashcards
remember that genomics obeys the first law of technology, we invariably over-estimate the short-term impacts of new technologies and under-estimate the longer term effects
first law of technology
genome wide association studies, personal genomics, nutrigenetics, individualized preventive medicine, pharmacogenomic tests for paid vs. slow metabolizers, single nucleotide polymorphisms, microdeletions and microduplications
important definitions
cultural religious beliefs and taboos, mendel, hutingon’s chorea, eugenics including buck vs bell forcing sterilization for preceived imbecilitiy whose law was in place until 1974, nazi experiments, neonatal screening leads to prenatal screening leads to preceonception screening, familial clusters of cancers, race-based genetic constructs
history of genetics
autosomal dominant disorders like huntington’s disease, marfan’s syndrome, autosomal recessive diseases like sickle cell anemia and tay sach’s, x linked recessive diseases like hemophilia A, chromosomal, mitochondrial disorders, polygenic disorders, somatic cell disorders, microdeletion/microduplication syndromes, variants of unknown clinical significance
basics
probabilities for carrier vs. diagnostic testing, paternity testing, genetic counseling, incomplete penetrance/gene expression, x-linked diseases
testing
consent, confidentiality, right to withold information, forensic applications, who owns my genetic information, costs, insurability, DTC testing
dilemmas
many affected fetuses are miscarried, some may be mosaics, is 47 chromosomes because of trisomy, down’s syndrome is trisomy 21, edwards syndrome is trisomy 18, patau is trimsome 13, klinefelters is XXY, jacobs is XYY and XXX, can also be monosomic at 45 chromosomes like in turner syndrome
aneuploidy chromosmal disorders
mendelian genetics defines that one copy is sufficiency to confer the trait, most persons are heterozygotes, involves gain/loss of funtion, diseases include huntington’s disease, spinal muscular atrophy, ***
autosomal dominant monogenic disorders
individuals have disease causing variants in both copies of a gene, heterozygotes appear normal or have mild disease, include sickle cell anemia, cystic fibrosos, alpha 1 ***
autosomal recessive monogenic disorders
most are x-linked, trait passes from father to faughter ***
sex linked disorders - monogenic
planning, reproductive choices, interventions in very early pregnancy, interventions for adult onset disorders
benefits of genetic testing
reproductive choices, costs, impact on extended family, blame
burdens of genetic testing
social networking, bypassing phyisicna input and adivce, web-basted genetic research into certain conditions like parkinson’s disease, regulations since there is a questions of the test kit being a medical deice, GINA
direct to consumer testing
social networking, bypassing phyisicna input and adivce, web-basted genetic research into certain conditions like parkinson’s disease, regulations since there is a questions of the test kit being a medical deice, GINA
direct to consumer testing
enacted in 2008, federal law that prohibits discrimination in health coverage and employment based on genetic information, does not supersede more protective state laws, covers you and your families genetic tests, fetal tests, manifestations of a disease ***
genetic information nondiscrimination act
