22. Ethics of Genetics

Question 1

Ethics

Answer 1

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

Question 2

who is the father of medical genetics

Answer 2

Hippocrates

Question 3

common things issues arise over in medicine

Answer 3

• specific issues arise as genetic information can belong both to an individual and their family
• new issues arise over technological developments in reproductive medicine

Question 4

patient/ gaurdian should be informed that:

Answer 4

• 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

Question 5

what is genetic testing used for today

Answer 5

1. diagnosis of single gene disorders
2. Predictive testing of genetic disorders in healthy people

Question 6

why might a person look for their family history of a genetic disorder

Answer 6

• concerned that they may develop the disorder
• no implications for own health, but concerned that they may have children with the disorder

Question 7

family conflicts with genetic information

Answer 7

• 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

Question 8

Clinician’s conflicts within genetic information

Answer 8

• 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

Question 9

Genetic testing of healthy children

Answer 9

• 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

Question 10

Genetic testing and Employment

Answer 10

requesting of genetic tests prior to employment is not permitted in Ireland under Disability Act 2005

Question 11

Disability Act 2005

Answer 11

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

Question 12

concerns with cloning

Answer 12

major biological concerns over safety of process for the potential child - disruption of imprinted genes

Question 13

human Gene editing WHO five categories

Answer 13

• 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

Question 14

social uses of genetic information

Answer 14

• paternity testing
• athletic testing
• ethnicity testing
• testing for specific genes involved in intellectual ability

Question 15

reproductive choices for parents of child with Cystic Fibrosis

Answer 15

• 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

Question 16

genetic testing of pregnancies

Answer 16

• 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

Question 17

termination of pregnancy in IRL

Answer 17

• 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

Question 18

examples of Fatal Foetal anomaly

Answer 18

• trisomy 13
• trisomy 18
• triploidy
• thanatophoric dysplasia
• severe skeletal dysplasia
• bilateral renal agenesis

Question 19

Pre-implantation Genetic Diagnosis (PGD) - Technique

Answer 19

• 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

Question 20

Preimplantation Genetic Diagnosis - uses

Answer 20

• 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

Question 21

non-invasive prenatal diagnosis

Answer 21

genetic testing of maternal blood, analyzing free fetal DNA

Question 22

what is non-invasive prenatal diagnosis useful in genetics for

Answer 22

• pregnant women who carry X linked disorders
• pregnant women with congenital adrenal hyperplasia, a disorder which can virilise females

Question 23

non invasive prenatal genetic testing for trisomy 13, 18, 21

Answer 23

• 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

Question 24

non-invasive prenatal genetic diagnosis for single gene disorders

Answer 24

• 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