Lecture 20

Question 1

Alzheimer’s lady

Answer 1

Found out that she has 75% chance of getting Alzheimer’s
Devastating news
No support
-there is no known treatment

Question 2

Stomach cancer family

Answer 2

sought genetic testing
taken lives of numerous family members
Children’s having aggressive treatment having their stomach’s removed
but consider it appropriate for the lives they can now live w/o cancer
done in a framework with medical and clinical geneticists

Question 3

Genetic information

Answer 3

Genetic information:
• personal, but it may also affect other family members
• may be predictive of future adverse health events in both an individual’s and family’s life
– There may or may not be interventions available to alleviate these
-do not underestimate the effect of an adverse helath event will effect fmaily members
• Genetic information and the choices people make based on it may affect future generations/reproduction
-seek prior to considering pregnancy
• Third parties are becoming increasingly interested in genetic information – police, immigration authorities, employers, insurance companies…..

Question 4

Issues to consider for Medical Professionals re Genetic Testing

Answer 4

• Determining what genetic services should be offered to whom and when
• Fulfilling responsibilities to both patients and their families
-broader responsibilities
-tensions between
• Communicating about the results of genetic testing
-when have important implications/ high predicitive effect/ potential harm

Question 5

Ethical Issues surrounding Genetic Testing

Answer 5

• Autonomy
– Rights to know, and not to know genetic information (not obliged)
• Responsibilities to patients and their families
– Maximising benefits and minimising harms
• Fairness and allocation of resources

Question 6

Offering Genetic Services : Testing at Risk individuals

Answer 6

• Testing at risk individuals
– How far should genetic professionals go to identify individuals at risk?
– When should tests be offered prior to conception?
– When should children be tested?

Question 7

Offering Genetic Services: Equitable or fair access to services

Answer 7

• Equitable or fair access to services
– Prioritising the use of limited resources
– Assessing families with specific conditions

Question 8

When should children be tested? Why?

Answer 8

– Test for early-onset conditions
– Test for adult-onset conditions for which treatment is available
– Test for serious adult-onset conditions for which treatment is not available (e.g. Huntingdon’s, early onset Alzheimer’s)

Question 9

Offering genetic testing: testing at-risk children

Answer 9

General agreement (internationally) that children NOT be gene tested for adult onset disorders for which nothing can be done to halt the onset of the disease.
• Why?
– Respect for (future) autonomy
(when they’re competent they may or may not, we cannot take this decision away from them in childhood)
– Non-maleficence – ‘do no harm’
(if we cannot treat this decision, then we are providing info about v serious health consequences without providing any benefit) (harm caused with minimal benefit)
• Why might such testing be considered harmful?

Question 10

Should we test children for adult onset conditions for which treatment is available?

Answer 10

child will be aware that there are other family members already affected by this

• is it more appropriate for them to wait until they’re an adult and can competently make that decision themselves
• some treatments can be started early in childhood that delay onset or make less severe

Question 11

Should children be tested for serious adult-onset conditions for which treatment is not available (e.g. Huntingdon’s, early onset Alzheimer’s)

Answer 11

• dont want to it to be too late that they dont have time to consider their reproductive decisions
• asking for consent
• -Do not test children for adult onset conditions prior to competency if cannot treat

Question 12

Offering Genetic Services for Prenatal diagnosis

Answer 12

• Prenatal diagnosis
– Severe congenital disorders – Sex selection (sex linked conditions)
– Minor conditions or conditions for which there are very effective treatment options
-Perfect baby?

Question 13

The case of Graham, Lily and Kendra (MG02)

Answer 13

During a clinical attachment you see a 64 year old NZ European man (Graham) who has recently been diagnosed with Huntington’s disease. He is with his daughter (Lily) who asks you about her chance of having Huntington’s disease and her chance of passing it on to her own children. Lily and her partner are considering starting a family and they want to ensure the disease is not passed on if Lily is affected.
Lily has a monozygotic (identical) twin sister, Kendra. Kendra, does not want to know her genetic status in relation to HD, considering that ignorance is bliss.
Does this case raise any ethical concerns/conflicts we need to consider? What might they be?

Question 14

Testing Lily, implications and issues

Answer 14

• As Lily and Kendra are identical twins they have the same genetic makeup. If Lily finds out she carries the mutation (for HD), then Kendra also carries it.
• Does Lily’s right to know (their HD status), trump Kendra right not to know (their HD status)? Why/why not?
-not immediately apparent
• Does Lily have an obligation to be tested because she is considering starting a family?
– Do we have an obligation to prevent giving birth to children with serious, debilitating diseases? “wrongful birth”
– Do children have a right to be born free of serious genetic diseases?

Question 15

Solution for Lily

Answer 15

whether preimplantation genetic diagnosis can occur

• can be kept in confidence in a way that the results of the test wont be obvious to Kendra
• is it a direct tension between two peoples differing interests
• can this be sensitively managed? one person can know results without it being obvious to others

Question 16

The case of Susan (Eth 01)

Answer 16

A 44 year old NZ European woman (Susan) found relatives she hadn’t known about after embarking on a genealogy project. Many of them had been diagnosed with breast cancer at an early age. She consulted her GP and after counselling underwent genetic testing. Results revealed she had inherited a predisposition to breast cancer that meant she had a 40-80% chance of developing it in her lifetime. She has an older and a younger sister and two daughters aged 12 and 19 years old.
Susan told her GP she did not want her family members to know she was being tested. However she did tell her 19 year old daughter who now is known to have a 50% chance of having inherited the same faulty gene.

Question 17

Questions surrounding the Case of Susan

Answer 17

When it was suggested to Susan that her sisters may also want to have information about their chance of having the mutated gene for predisposition to breast cancer, Susan indicated that she would not be communicating with them.
Does the GP or the genetic counselling team have an ethical/professional obligation (duty) to inform Susan’s relatives about their increased risk?
– Why/why not?
– What tension may arise in this situation?

Question 18

Susan and her sister

Answer 18

Susan’s younger sister Mary applies for life and health insurance. Susan and Mary have the same GP. The GP has to provide relevant information to the insurance company. Mary had honestly answered that while she knew her mother had been diagnosed with breast cancer there was no other family history of the disease. She was not aware of the research or testing of Susan.
– What should the GP do in this situation given that she knows that Mary may also carry the faulty gene? Does she have a duty to disclose this information to the insurance company?

Question 19

Does the GP or the genetic counselling team have an ethical/professional obligation (duty) to inform Susan’s relatives about their increased risk?
– Why/why not?
– What tension may arise in this situation?

Answer 19

Yes: at moment have no idea of their risk. benefits in managing health when going forward
No: Can you advise somebody of risk without providing information about somebody else testing.
-HOW you provide the information (w/o making it obvious what a test result is)

Question 20

Confidentiality and privacy issues

Answer 20

• Respect for a person’s right to privacy requires that genetic information not be disclosed to others without the person’s consent.
-HOW you communicate information w/o making it obvious what a test result it
• Yet a tension arises when genetic test results reveal potentially adverse information about future risk(s) to others.
• Individuals have both a (legal and moral) right to know information about them, and a right not to know.

Question 21

Rights to know and not to know

Answer 21

• While it can be claimed that family members have a right to know about a genetic condition that may affect them…
• How do you advise someone that there may be some risk and a genetic test may be valuable without violating their right not to know?

Question 22

Order of communication

Answer 22

Geneticists often try to communicate with GP first without speaking directly to family members first

• sometimes will go straight to family members if they think that the risk of harm is high enough
• challenging to provide information if person hasn’t come in to solicite this information, to provide information on a risk without making it very clear that there is a risk to be worried about

Question 23

Communicating about results of

genetic testing

Answer 23

• Voluntary versus mandatory counselling
-alzhiemer
-often mandatory to allow weighing of info appropriately, to manage/what system/measured need to be taken
• Directive versus non-directive counselling
-prenatal testing. suggestion of preg should be terminated or will results be given without advice as to how to manage/approp course of action
• Full disclosure versus selective disclosure of
results
-non anticipated info
• Confidentiality versus duty to inform relatives at genetic risk
• Privacy of genetic information and interests of institutional third parties
• Understandings of genetic test results determinism, discrimination, stigmatisation

Question 24

Findings with implications for familial relationships

Answer 24

• Genetic screening for a specific condition may involve screening multiple family members
• Potential findings include:
– Misaligned paternity
– Adoption
– Incest
• How should such findings be managed? What ethical issues may arise?
-pot v v significant harms

Question 25

Third parties

Answer 25

• Who might be interested in your genetic status?
– Insurance companies (life and health)
-insurers cannot require you to be tested
• Need to disclose results of genetic tests if asked,
however cannot be required to be tested
– Employers
-intersted if health and saftey risk associated with your condition (epilepsi for pilots/drivers)
• Especially for increased risk of conditions that could adversely affect your work
– Immigration authorities
• Genetic conditions requiring ongoing medical
treatment
– Police (just to identify)
• You may be required to give a sample

Question 26

Genetic determinism

Answer 26

• The idea that genes are all that count and that your fate will be solely determined by your genes
– Explored in the film GATTACA
– Genetic and genomic data are complex, and experts are still just beginning to understand aspects of these
• Press reporting of ‘a gene for’ intelligence or homosexuality, ‘the warrior gene’ etc.
• Genes have a role to play in understanding and predicting disease progression
• However, genomic information is complex and there is still so much we don’t know
• Many traits involve complex gene/gene and gene environment interactions
• Genes are part of the story, but not the whole story
-wont determine whole condition, unless v high penetrance/particularly severe condition
-down syndrome baby, tell parents balanced information

Question 27

Genetic discrimination

Answer 27

‘Unfair treatment because of differences in their DNA which increase their chances of getting a specific disease’
– Examples of genetic discrimination by insurers documented in multiple countries
– May be refused coverage or offered coverage at a higher premium
– Concerns about discrimination may prevent people from having necessary tests or participating in relevant research (seek to hide results, so go overseas, because once have this information are legally required to disclose the information to insurers with financial consequences)

Question 28

Genetic stigmatisation

Answer 28

• Social consequences of genetic information for individuals
• Social consequences of inappropriate reporting of genetic research with populations
-manner in which info is reported
-effects on way that group is viewed
• Of particular concern if a condition or trait is already sensitive / stigmatised

Question 29

Looking forward: developments in genetic and genomic medicine

Answer 29

• Costs are dropping dramatically for sequencing individual human genomes
-more accesible
• Discussions about routine sequencing of neonates
• Establishment of regional and national biobanks

Question 30

Features of genomic data

Answer 30

• Significant research is needed to better understand genomic data and its implications for human health, particularly at the individual level
• Genomic data is expected to be useful for a variety of research purposes including
– Studies of different diseases
– Gene / gene and gene / environment interactions
– Development of statistical methods
– Additional research, such as ancestry and migration studies
• Frequently a condition of funding genomic sequencing is that the genomic data generated is made available to other reputable researchers
• The more phenotypic data is attached to genomic data, the more useful it can be for researchers looking at relevant diseases and the greater chance of identifying participants

Question 31

All issues arising surrounding Medical Genetics

Answer 31

• The appropriate design of recruitment and consent processes
• Potential benefits and harms of research and biobank participation
– Protecting privacy and confidentiality – Security
– Feeding back results
• Appropriate storage and governance of biobanks and genomic databases
– Who should be allowed to access the data?
– For what purposes?

Question 32

Havasupai Indians

Answer 32

• Broad consent given but Havasupai understood that only research into Type 2 diabetes would be conducted with their DNA
• Samples were kept for over 20 years and used in multiple studies, including ancestry research and research into schizophrenia, which were considered deeply offensive
• Following a legal battle, the remaining samples were returned to the Havasupai along with a substantial financial settlement by the University of Arizona

Question 33

Feeding back individual research results

Answer 33

• Should results at the individual level be fed back to participants?
– Many genomic studies of complex gene/gene and gene/environment interactions may not generate findings that are specific to individuals
– Research findings may not be sufficiently robust to feed back to individuals
– Participants may not consent to have results returned
– Considerable infrastructure and resources may be needed for appropriate feedback

Question 34

Issues arising when feeding back research results

Answer 34

• May be incidental and entirely unanticipated
• May have implications for family and community
members
• May have financial implications
– Interpretation and misinterpretation of implications of results by insurers and employers
• May have social implications
– It may not be the information so much as what you do
with it
– Results at an individual or community level may contribute
to existing stigmatisation and discrimination

Question 35

Issues arising when feeding back research results: Do conditions need to be satisfied before any results are fed back?

Answer 35

• Do conditions need to be satisfied before any results are fed back?
– Scientific validity
– Clinical significance
– Recognised therapeutic or preventive measure