22. Ethics of Genetics Flashcards
Ethics
branch of philosophy concerned with the systematic study of human conduct and values
- a correct code of behavior
- the moral fitness of a decision or course of action
who is the father of medical genetics
Hippocrates
common things issues arise over in medicine
- specific issues arise as genetic information can belong both to an individual and their family
- new issues arise over technological developments in reproductive medicine
patient/ gaurdian should be informed that:
- there is a possibility that the medical problem a person has is genetic
- a genetic test is being performed to try and obtain a diagnosis
what is genetic testing used for today
- diagnosis of single gene disorders
- Predictive testing of genetic disorders in healthy people
why might a person look for their family history of a genetic disorder
- concerned that they may develop the disorder
- no implications for own health, but concerned that they may have children with the disorder
family conflicts with genetic information
- individual does not wish to reveal diagnosis or genetic nature of disease to family
- “Crusaders” within families pressuring relatives
- new information may contradict previous advice within family
Clinician’s conflicts within genetic information
- family members asking for test results on relatives
- family members wishing for group predictive tests
- confidentiality about non-paternity
- respecting an individual’s right to privacy of genetic information
- genetic registers
Genetic testing of healthy children
- predictive test for adult onset disease, eg. Huntington’s disease, hereditary cancer
- Carrier testing for autosomal recessive disorders, X linked disorders or chromosomal translocations
not generally in the child’s interest, should defer until person can be involved in the decision process themselves
Genetic testing and Employment
requesting of genetic tests prior to employment is not permitted in Ireland under Disability Act 2005
Disability Act 2005
makes the processing of genetic data for insurance or employment an offence under the protection acts
Genetic testing requires consent in accordance to GDPR and all reasonable steps taken to provide information on purpose, outcomes and implications of the test
concerns with cloning
major biological concerns over safety of process for the potential child - disruption of imprinted genes
human Gene editing WHO five categories
- somatic editing or germline editing
- edited in utero
- edited after the person is born
- editing is genetic or epigenetic
- editing is done to treat or prevent a disease or to “enhance” the person
social uses of genetic information
- paternity testing
- athletic testing
- ethnicity testing
- testing for specific genes involved in intellectual ability
reproductive choices for parents of child with Cystic Fibrosis
- have no further children
- take 1/4 chance of affected child
- consider prenatal diagnosis
- consider donor insemination
- consider adoption
- consider preimplantation genetic diagnosis
- non invasive prenatal diagnosis may be possible
genetic testing of pregnancies
- pregnant parents may request a genetic test of a pregnancy for a genetic disorder known in the family
- termination of pregnancy legal in many EU countries
termination of pregnancy in IRL
- termination of pregnancy may be carrier out before 12 weeks
- terminated may be carried out after 12 weeks where there is a risk to the life of the mother
- termination may be carried out after 12 weeks for a fatal fetal anomaly likely to lead to death of the fetus before or within 28 days of birth
examples of Fatal Foetal anomaly
- trisomy 13
- trisomy 18
- triploidy
- thanatophoric dysplasia
- severe skeletal dysplasia
- bilateral renal agenesis
Pre-implantation Genetic Diagnosis (PGD) - Technique
- genetic testing of an embryo generated by IVF, prior to implantation
- 2 cells removed by embryo biopsy at 8 cell stage
- 2 cells tested for relevant genetic alteration
- embryos not at risk of genetic disorder implanted
- embryos with genetic alteration not implanted
Preimplantation Genetic Diagnosis - uses
- initially intended for those at significant risk of having a child with serious handicap
- possible for CF, Duchenne Muscular dystrophy, sickle cell anaemia, thalassaemia and many rarer genetic disorders
- sex selection possible
- possible for those at risk of chromosome disorders
non-invasive prenatal diagnosis
genetic testing of maternal blood, analyzing free fetal DNA
what is non-invasive prenatal diagnosis useful in genetics for
- pregnant women who carry X linked disorders
- pregnant women with congenital adrenal hyperplasia, a disorder which can virilise females
non invasive prenatal genetic testing for trisomy 13, 18, 21
- carried out on maternal blood at 9 weeks gestation
- not HSE funded
- misleadingly described as 00% accurate
- screening test - the results have been incorrectly interpretated as definitive, and pregnancies have been terminated on a basis of screening
non-invasive prenatal genetic diagnosis for single gene disorders
- carried out on maternal blood at 9 weeks gestation
- for couples with high risk of single gene disorder
- limited number of conditions can be tested
- result potentially available before 12 weeks
