Ethics Flashcards
Who can order genetic tests in the NHS
Genetic Counsellors (MSc or STP trained) Geneticists (specialised doctors)
As of Feb 2021, all health professionals as per guidance in the National Test Directory
The available tests to a doctor will depend on their speciality
Outside of the NHS, who can order genetic tests
Researchers
Everyone can access private genetic testing through direct-to-consumer companies
Some have genetic counselling and some do not
Is WGS used for genomic testing
Whole genomic sequencing (WGS) not yet available in the NHS
Whole exome sequencing (WES) is available for foetal/acutely unwell children
WGS is used in research - biobanks and 100,000 genomes project
What can genetic tests tell you in addition to diagnosis
Cancer predisposition genes
Cardiac condition predisposition genes
Carrier status for reproductive decision making
What are the main genetic testing options - diagnostic and predictive
Diagnostic
Single gene
Gene Panel
The more genes you look, the more likely to find a variant of unknown significance (VUS)
Predictive
Only looking for a specific familial variant
Can only be ordered by genetics currently
What is genetic counselling
It’s a communication process to help patients
Understand a medical condition
Understand their risk of carrying a gene that predisposes/causes the condition
Understand the implications for their family members
Make informed decisions, autonomously in a non-judgemental environment
By providing support to the patient with the result
Genetic testing is not compulsory - unlike some other medical interventions
What are issues surrounding counselling
Informed consent
Guilt and blame
Uncertainty, managing expectations (VUS or no result)
Confidentiality, disclosure to family, coercion, twins (where one wants testing, the other doesn’t)
Non-paternity
Testing in childhood
Prenatal testing (couple disagree), termination (social/religious/family/personal beliefs)
More options can limit autonomy
What is informed consent
Consent must be informed, free of coercion (voluntary), from someone who has capacity
What is the complication with informed consent regarding genetic tests
Can you provide truly informed consent when the future use may not be known
Broad consent requires investigators to offer participants a range of choices regarding consent to the ongoing storage and future use of their personally identifiable data
It does not cover every possible use of the data
Is it feasible to contact patients with each new application to access the data
Why may patients NOT disclose genetic information to relatives
Denial
Not understanding the importance of the information for their relatives
Trying to protect their relatives
Do not feel the relative could cope with this information
Does not want to share ‘negative’ information
Tense relationship/not in contact with relatives
ABC Vs St George’s
When can you disclose information and break confidentiality
The patient agrees
The disclosure is of overall benefit to a patient who lacks the capacity to consent
The disclosure is required by law or is permitted/approved under a statutory process
When disclosure can be justified in the public interest such as where ‘failure to disclose the information leaves others at risk of death or serious harm’.” – BSGM (2019)
What are the four principles of medical ethics
Respect for autonomy - enabling individuals to make their own reasoned informed choice
Beneficence - acting in the best interest for the patient
Non-maleficence - avoiding unnecessary harm to the patient
Justice - acting in fairness, equal care for all
