Ethical issues in relation to genetics and personalised medicine Flashcards
Describe how genetics emerged
- Inheritance took shape with theory of evolution
- Evolved out of de-centring humans (much like Copernicus), entering humans into the animal kingdom
- human populations began to be interpreted in terms of their genetic and evolutionary status almost immediately
Describe the origins of eugenics
- the use of evolution theory to justify hierarchy of race/naturalise existing prejudice
- note: was used to describe more than just race, other social structures such as class
- Eugenics emerged in the US and UK, taken up by Nazi Germany
- Perceived the German people as a body, whose overall health was prioritised over individuals
- to enact a eugenic program of mass murder, to eliminate the disabled, Roma, Jews, among others
Describe the relationship between medicine and ethnicity
- race is now understood as a social construct, much like class
- it lacks any real biological or genetic significance
- but some diseases with genetic aetiologies are more represented in particular ethnic groups ^[do not confuse ethnicity with race] e.g. sickle cell disease and central African populations/other areas where malaria is prevalent
- some Jewish populations e.g. Ashkenazi have higher prevalence of familial dysautonomia, BRCA gene mutations, CF, Tay-Sachs disease and so on
- NOTE: important not to neglect the significance of genetics and its relationship to specific populations or socio-culturally defined groups
- NOTE 2: It is equally vital to take care with the language we use
Discuss the elements of eugenics not typically thought to be negative
- the term is intimately associated with some of the worst events of human history
- a loaded term
- however, not all practices that are borne out of eugenics are not inherently morally objectionable
- pioneers of contraception and concepts of individual reproductive choice
- procreative beneficence: parents should use genetic screening to select ‘best child possible’, and that this technology should be available but not compulsory
Discuss what ethical dilemmas are raised by compensated sterilisation
Compensated sterilisation
- Project Prevention: cash incentives to those addicted to drugs or alcohol to use long term or permanent forms of contraception
- Uptake mainly women, some men
- Issues of: coercion, and not really a means of rehabilitating those suffering from SUD
Discuss Down’s Syndrome and prenatal testing
- Rates of children born with Down’s Syndrome have lowered significantly since the advent of ultrasound, amniocentesis, and NIPT
- Despite the fact that the state does not require testing, and does not mandate particular testing, people appear to be making the same decision
- This raises questions of autonomous choices
- The state sets structural conditions within which choices are made, and on top of that, healthcare professionals and society create a collective cultural context for decision making
- This then shapes free choice: patients report an implicit pressure to terminate following prenatal diagnosis
Discuss the limitations and ethical questions around polygenic risk scores
- currently genomic information required to make serious predictions about someone’s future is just emerging
- probability assessments, rather than definitive answers, are more likely
- Limitations and ethical questions:
- use of this knowledge requires IVF (low uptake in population, 5% of births)
- moreover, what constitutes the ‘best child possible’ as per Savelescu, remains unclear
- raises issues about what could be selected for or against: beauty, intelligence, skin tone… ^[also broader ramifications, loss of creativity with loss of schizophrenia linked genes, increased sadness with the genes associated with IQ]
- donors vs. biological children
Discuss the role of genetics in modern medicine
- Personalised/precision medicine primarily used for cancer (selecting drugs, identifying subtype)
- Developments in this field will open the doors for other treatment
- It will also bring a host of ethical issues: reproduction, testing (diagnosis vs risk, absence of treatment, incidental/secondary findings), screening, and status of genetic information (privacy, familial interests) all have broader significance
- There are also questions as to how medicine or health is intruding on our shaping how we live our lives
Describe the effects of genetic testing and WGS
Genetic testing
- Some tests are definitive
- Most are indicative of risk e.g. BRCA 1 and 2, probabilistic
- But, cancer may never develop in someone wither higher risk, and someone with lower probability may develop the disease
- Tests have an effect of life beyond the development of disease e.g. the worried well
- Note: when it comes to testing children the concept of an ‘open future’ predominates, unless there is a direct, clear and immediate benefit to the child
WGS
- May become a routine medical practice along with other forms of NBS, as cost has dropped precipitously and will continue to do so
- notably, some individual’s will prefer not to know their genetic profile, and so generating this information for all is not a good idea
- This can be further complicated by private/corporate interests
Beyond the individual
- WGS provides information not only about the individual, but also those they are related to
- Information about an individual’s health can be significant for those biologically related to them, raising questions about who should be told, when, and why
Examples
- Genetic tests can reveal:
- genes (dominant/recessive) for a specific disease
- increased RF for cancer
- misattributed paternity
- all of these findings will raise questions for people other than the patient
- It may also compromise an individual’s right not to know
- Consider a three-generation family, the elder individual is diagnosed with Huntington’s or high risk of X, the middle-aged individual does not wish to know, but the younger person does, and receives a positive test
Huntington’s disease
- father asked for diagnosis to be withheld until daughter’s child was born
- daughter sued father’s doctors, claiming duty of care to share the diagnosis
- https://www.theguardian.com/society/2020/mar/01/huntington-disease-ruling-doctors-duty-to-tell-patient-family
- “For the first time, the law now requires clinicians to perform a detailed balancing exercise between the interests of the patient in keeping information confidential and those of any at-risk third parties with whom they have a close relationship…established such a balance should now be made as a legal necessity.”
Describe the effects of genetic testing beyond health
Health and life insurance
- genetic testing can have significance beyond the individual and their family
- effect of genetic testing on premiums, could have a knock-on effect e.g. where health insurances are linked to employment, an individual could be rendered unemployable
- similar concerns with life insurance: can be a condition of a mortgage, or a components of financial planning
23 and Me
- results have lead to surprising outcomes, such as discovering unknown siblings, revealing secret adoptions, infidelity, ART use
- forensic uses: e.g. Golden State Killer and GEDmatch
- ethical issue: how this differs from national database
Discuss ethical issues around genome editing
Editing the genome
- the possibility of editing the genome of an early embryo
- pro arguments:
- procreative beneficence
- to cope with impending global challenges (climate, pandemic solidarity, overpopulation)
- editing raises issues alongside selection, such as directing evolution (who gets to choose)
Therapeutic genome editing
- e.g. CRISPR to treat sickle cell anaemia, and beta thalassemia
- many applications therapeutically
- may become the standard e.g. childhood immunisations
- broader issues of ‘enhancement’ e.g. athletics, or for the ordinary person
