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Medical Ethics and Law > Genetic Controversies > Flashcards

Flashcards in Genetic Controversies Deck (13)
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1
Q

what is the role of clinical genetics?

A
  • Identify patients with, or at risk of, a genetic condition
  • Communicate genetic information in an understandable, non-directive manner
  • Offer people recommendations re screening
  • Discuss implications of gene testing on themselves and family
  • Options re treatment
2
Q

what are different ethical terms?

A
  • Respect
  • Autonomy
  • Beneficence
  • Non maleficence
  • Justice
3
Q

What is an ethical dilemma?

A

Definition: a situation in which a difficult choice has to be made between two courses of action, either of which entails transgressing a moral principle

4
Q

what may some possible ethical scenarios involve?

A
  • Predictive genetic testing- implications for other family members, decision making
  • Cancer and Huntington’s disease
  • Prenatal testing – Turners syndrome
5
Q

what is Huntington’s disease?

A
  • Neuro degenerative condition
  • Autosomal dominant
  • Onset usually in adulthood
  • No treatment available

Huntington’s disease is a condition that stops parts of the brain working properly over time. It’s passed on (inherited) from a person’s parents. It gets gradually worse over time and is usually fatal after a period of up to 20 years

6
Q

Scenario:

  • Dr L Hofstadter works as a Physicist at a university and comes to the clinic to discuss his family history of Huntington’s Disease
  • Wants to discuss being tested for Huntington’s Disease
  • What are issues to consider?
A
  • Implications of result being positive/negative
  • Insurances
  • Potential impact of testing on self, family and work
  • Mr L Hofstadter decides after discussion with the Genetic Clinic staff not to test as needs to keep his job and states feels well at present
  • 45 years old and still able to do String Theory
7
Q

Huntington’s Disease Scenario:

  • 20 Year old woman attend Genetics clinic requests genetic testing for HD
  • 45 Year old Dad (Mr L Hofstadter) says he has anxious spells but otherwise seems well
  • Identify the issues
  • ?How to deal with them
A

Start with the same issues as we did with the father, find out what she understands about FH, the risk, reasons for testing

Maybe get father back in and discuss together as if she is positive then it’s a result that he hoped not to do

Trying to avoid harm

  • Dad still declines to be tested
  • Should daughter be allowed a test? - Daughter still allowed to be tested so would be wrong to deny her the test
8
Q

Prenatal Diagnosis:

  • Mrs Jones aged 39
  • First pregnancy
  • 12 week viability scan reveals increased nuchal fold measurements on USS
  • Further pre natal testing discussed due to maternal age and increased nuchal fold measurements

How is prenatal diagnosis done?

A
  • Chorionic villus sampling > 11 weeks
  • Amniocentesis > 15weeks
  • Risks?
  • Issues to consider
9
Q

Pre genetic testing scenario:

  • Amniocentesis performed
  • Results show Mosaic Turners syndrome
  • Results given to the couple by Obstetrician and referred to Genetics Clinic for further discussion
  • Couple express wish to consider termination

What are the issues in regards to this and what should be thought about?

A
  • Issues for Genetic counsellor
  • Professional responsibilities to couple
  • Self awareness
  • Autonomy - trusting the patients to know what is right for them
  • Supporting couple in decision
  • Couple decide to terminate the pregnancy
10
Q

What is involved in Breast cancer gene mutations testing?

A
  • BRCA1 and BRCA2 known pathogenic gene variants
  • Significantly increase risk of developing breast and ovarian cancer
  • NHS funded testing available to those considered at high risk
  • Eligible for extra breast screening by mammography
  • Risk reducing surgery an option if found to be a carrier
11
Q
  • 20 year old daughter of BRCA1 carrier seeks predictive gene test?
  • Issues to be considered?
  • What are the differences with this patient and the 20yr old HD carrier?
A

Other issues:

  • Secrecy within families - not wanting to share relevant genetic information with children at child bearing age. Want to protect them from difficult news
  • What do you do?
  • Parents disagree as to what to share with their children
  • Who should have the final say?
12
Q

Impact on self:

  • Will support many patients with _____ decisions over your career
  • Maintain _______ approach
  • Be ____ aware
  • Seek ______/discuss cases with others
A

ethical

objective

self

support

13
Q

Summary:

  • Ethical issues arise _____ in the Genetic Clinic
  • No right or ______ answers
  • Genetic counselling offers impartial information to allow patients to make their own _______
  • Genetic diagnosis impacts patients, their families and the ______ ________ _____ involved
A

daily

wrong

decisions

Genetic Counselling Staff