Ethical issues in genetics and genomics: Section 3

Transcript Ethical issues in genetics and genomics: Section 3

Ethical issues in genetics and genomics

Section 3

Lesson Plan: Ethical issues in genetics

and genomics – considering how people make decisions 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

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.

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?

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.

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?

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.

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.

This next set of slides include more family history to enable the ‘students’ to consider the wider implications for the family

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?

RIP @ 32 Dissecting aneurysm RIP @ 65 Aortic Dissection 47 1963 Dilated Aortic root valve surgery 46 1964 Aortic Dissection 26 1984 MV prolapse Dilated aortic root 1986 24

9 2001 Echo normal Aorta 2005 Echo normal Aorta 5 2007 3

Symbol meanings

Loeys-Dietz syndrome

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

? MI RIP @ 51 CVA RIP @ 70 CABG heart failure 57 yrs RIP @ 29 DCM LMNAC mutation f/w 21 yrs 23 yrs

DCM LMNA RIP@34 LMNAC mutation 36 yrs

Symbol meanings

Other

Genetics and genomics for healthcare www.geneticseducation.nhs.uk

• Sue, 23 year old mum

Ethical Issue 3

• 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?

Coronary thrombosis @ 47 yrs parkinsons @ 74 57 1953 high lipids 60 1950 Diabetic 23 yrs LQT ICD 2007 3

Long QT

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?

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 anti depressants). 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.

8 7 49 50 1 Maureen 14/3/1960 2 Micheal 10/10/1959 10 46 9 Francis 8/8/1963 26 4 Simon 10/1/1984 23 21 6 16 0 C Sarah Long @19 20/5/1986 3 Sherie 20/9/1988 11 Lizzie 11/6/1990 (+sudden cardiac death) 12 Joanne 19/10/1993 2 5 Frankie 3/7/2007 2 6 Dylan 3/7/2007

Long QT

Genetics and genomics for healthcare www.geneticseducation.nhs.uk