Ethical issues in genetics
and genomics
Section 3
Lesson Plan: Ethical issues in genetics
and genomics – considering how
people make decisions
© 2012 NHS National Genetics Education and Development Centre
Genetics and genomics for healthcare
www.geneticseducation.nhs.uk
• This powerpoint has a series of ethical
scenarios, you can mix and match which
ones you would wish to include
• There is also a word document which has a
set of consent and confidentiality scenarios
available with kind permission from the Joint
Committee on Medical Genetics
© 2012 NHS National Genetics Education and Development Centre
Genetics and genomics for healthcare
www.geneticseducation.nhs.uk
Ethical issues – case 1
David (19) collapsed and was found to have a HB of 6.4g/dl.
Investigations identified Familial Adenomatous Polyposis
(an inherited cancer syndrome with mean age of death 40).
His sister and a maternal aunt were also at risk.
David was willing to discuss his diagnosis with his sister but
refused to contact his maternal aunt because of a serious
family rift.
© 2012 NHS National Genetics Education and Development Centre
Genetics and genomics for healthcare
www.geneticseducation.nhs.uk
Ethical issues – case 1
• What ethical issues does this raise?
• How might the professionals involved endeavour to
resolve the situation?
• The maternal aunt is also a patient of the general
practitioner involved. Does this raise any other
ethical issues?
© 2012 NHS National Genetics Education and Development Centre
Genetics and genomics for healthcare
www.geneticseducation.nhs.uk
Ethical issues – case 2
Judith (26) comes from a family with a
significant history of ovarian cancer. A
causative mutation has been identified in a
maternal aunt.
Judith is at 25% risk of having inherited the
altered gene and requests a predictive
test. Her mother (at 50% risk) has
previously stated that she does not wish to
know her gene status. If Judith has a
positive result, her mother’s status will
inevitably be revealed.
© 2012 NHS National Genetics Education and Development Centre
Genetics and genomics for healthcare
www.geneticseducation.nhs.uk
Ethical issues – case 2
• Consider the ethical issues raised from both Julie
and her mother’s perspective.
• How might the professionals involved attempt to
resolve this situation?
• What clinical considerations might influence the
decisions made?
© 2012 NHS National Genetics Education and Development Centre
Genetics and genomics for healthcare
www.geneticseducation.nhs.uk
Ethical issues – case 3
Amy developed breast cancer several years ago at
the age of 37. She has since been found to have a
BRCA1 mutation (one of the gene mutations which
are known to predispose to breast cancer).
She would like her two daughters, aged 15 and 9, to
have a predictive test.
© 2012 NHS National Genetics Education and Development Centre
Genetics and genomics for healthcare
www.geneticseducation.nhs.uk
Ethical issues – case 3
• What ethical issues are raised by this request?
• Would predictive testing be appropriate or not?
Whatever your conclusion please try to identify
several reasons.
© 2012 NHS National Genetics Education and Development Centre
Genetics and genomics for healthcare
www.geneticseducation.nhs.uk
This next set of slides include more family
history to enable the ‘students’ to consider the
wider implications for the family
© 2012 NHS National Genetics Education and Development Centre
Genetics and genomics for healthcare
www.geneticseducation.nhs.uk
Ethical issue 1
• Alice, 47 year old lady? Marfans
• Paul, brother – aortic aneurysm, referred for assessment?
Marfans
• Alice wanted information on brother, re-assessment, bloods –
mutation found
• Paul, contacted genetics asking for information and what had
happened with his sister - seen in clinic, bloods taken. A mutation
is found - Paul requested genetic screening on his children.
• What would you do/ advise Paul?
© 2012 NHS National Genetics Education and Development Centre
Genetics and genomics for healthcare
www.geneticseducation.nhs.uk
RIP @ 32
Dissecting
aneurysm
RIP @ 65
Aortic
Dissection
47
46
1963
Dilated
Aortic root
valve surgery
26
24
1984
1986
MV
prolapse
Dilated aortic root
1964
Aortic
Dissection
9
2001
Echo
normal Aorta
5
2005
Echo
normal
Aorta
3
2007
Symbol meanings
Loeys-Dietz syndrome
© 2012 NHS National Genetics Education and Development Centre
Genetics and genomics for healthcare
www.geneticseducation.nhs.uk
Ethical issue 2
• Carl, sudden death at 34years old, PM – cardiomyopathy,
mutation found
• Mum, Zara had died at 29 years and also had cardiomyopathy,
husband keen for rest of family to be screened
• Albert, 57 year old male seen in clinic as told to go and be
screened by brother-in-law, unsure what was going to happen,
thought it was just a test
• Daughter aged 23 is a professional (athlete) - judo
© 2012 NHS National Genetics Education and Development Centre
Genetics and genomics for healthcare
www.geneticseducation.nhs.uk
? MI
RIP @ 51
CABG
heart failure
57 yrs
21 yrs
CVA
RIP @ 70
RIP @ 29
DCM
LMNAC mutation
23 yrs
DCM
LMNA
RIP@34
LMNAC mutation
f/w
36 yrs
Symbol meanings
Other
© 2012 NHS National Genetics Education and Development Centre
Genetics and genomics for healthcare
www.geneticseducation.nhs.uk
Ethical Issue 3
• Sue, 23 year old mum
• History of blackouts ref via neuro as investigated for epilepsy.
Reveals – VT & Torsades, ICD implant. Referred to joint clinic as
LQT.
• Emergency transfer for ICD upgrade.
• 24 hour post procedure, cardiology request for gene test whilst
on CCU
• What would you do?
© 2012 NHS National Genetics Education and Development Centre
Genetics and genomics for healthcare
www.geneticseducation.nhs.uk
Coronary
thrombosis
@ 47 yrs
parkinsons
@ 74
57
60
1953
high lipids
1950
Diabetic
23 yrs
LQT
ICD
3
Symbol meanings
Long QT
2007
© 2012 NHS National Genetics Education and Development Centre
Genetics and genomics for healthcare
www.geneticseducation.nhs.uk
Ethical issue 4
• Nick, 42 year old male with a history of cardiomyopathy and
arrhythmia, treated with pacing
• Had been in contact with insurance company re mortgage
• Post transplant received a request from insurance company
requesting information about the family, in particular
siblings.
• Would you provide the information?
© 2012 NHS National Genetics Education and Development Centre
Genetics and genomics for healthcare
www.geneticseducation.nhs.uk
© 2012 NHS National Genetics Education and Development Centre
Genetics and genomics for healthcare
www.geneticseducation.nhs.uk
Ethical issue 5
• FHx: Cousin – sudden death at 7years, PM->Long QT.
• Sarah diagnosed at 19 years, suffered with faints. Treated with
beta blockers (Atenolol).
• Sarah has psychiatric problems and depression (on antidepressants). S/b psychiatric team and dx with body
dysmorphism syndrome. Obsessed with her chest size – wanted
referral for breast augmentation.
• Anaesthetist not willing to operate due to her LQT dx and non
compliance with medication.
© 2012 NHS National Genetics Education and Development Centre
Genetics and genomics for healthcare
www.geneticseducation.nhs.uk
8
49
1
Maureen
14/3/1960
26
4
Simon
10/1/1984
50
2
Micheal
10/10/1959
23
0
CSarah
Long @19
20/5/1986
2
2
5
Frankie
3/7/2007
6
Dylan
3/7/2007
7
21
3
Sherie
20/9/1988
46
10
9
Francis
8/8/1963
6
16
11
12
Lizzie
Joanne
11/6/1990 19/10/1993
(+sudden
cardiac death)
Symbol meanings
Long QT
© 2012 NHS National Genetics Education and Development Centre
Genetics and genomics for healthcare
www.geneticseducation.nhs.uk