Genetic Testing Ethics Flashcards
what is genetic testing?
a laboratory test of a person’s genes or chromosomes for abnormalities, defects or deficiencies, including carrier status, that are linked to physical or mental disorders or impairments, or that indicate susceptibility to illness, disease or other disorder, whether physical or mental, which test is direct test and not an indirect manifestation of genetic disorders
what are the two types of genetic testing?
- diagnostic: determines cause of a disease
2. predictive: determines risk for a disorder
for which diseases is predictive genetic testing done?
- cystic fibrosis
- breast cancer
- huntington’s
what are BRCA1 and BRCA2?
TSGs!!
so if these genes are mutated, it’s linked to hereditary breast and ovarian cancer
what are some reasons to do genetic testing?
- woman delivers a stillborn child with physical signs of a genetic illness
- pregnancy over 34
- if standard prenatal screening test had an abnormal result
- confirmation that a medical problem has a genetic cause due to a particular syndrome
- if there’s a family incidence of an inherited illness
- there’s already a child with a severe birth defect
- woman has had two or more miscarriages
what are the pros to genetic testing?
- advance medicine and public health
- correlate disease to genes
- allow individuals and families to make lifestyle, fertility and planning decisions.
- may be reassured by a negative result
what are the cons to genetic test?
- payment
2. potential to lose health insurance
what’s the nondiscrimination information act?
prohibits group health insurance plans and issuers of coverage from basing eligibility or adjusting premiums on the basis of genetic information
insurance companies cannot require or purchase results of genetic tests
prohibits employers from firing, refusing to hire or otherwise discriminating against (potential) employees
what are the implications of genetic testing?
- choices to terminate pregnancy
- choices not to have children
- presymptomatic treatment of patients identified with CF has not been shown to delay onset of disease.
- genetically affected children may be discriminated against, by being ‘classified’ by education systems
what is 23andMe?
biotech firm tests a saliva sample for $100
provides information about:
- who your ancestors were
- the risks you have of developing various diseases
what is PGD?
pre-implantation genetic diagnosis
what are the current prenatal genetic testing options?
- amniocentesis
- chorionic villus sampling
- multiple-marker screening test
- cell-free fetal DNA test
what is amniocentesis?
needle aspirates amniotic fluid through abdomen/uterus at 16 to 18 weeks
detects:
- chromosomal abnormalities
- genetic disorders
- neural tube defects
what is CVS?
needle aspiration of chorionic villi through abdomen/uterus or cervix at 11 to 13 weeks
detects:
- chromosomal abnormalities
- genetic disorders
what is multiple-marker screening test?
maternal blood draw at 15 to 20 weeks
detects:
- down syndrome
- edwards syndrome
- neural tube defects