Ethic and Genetics I

Ethic and Genetics IIs there anything special about genetics?Uniquely identifies peopleShared with familiesPredictive of future healthEasily obtainableAvailable before birth May be of interest to third parties

Uses of Genetic TestsDiagnostic (adjunctive, prognostic, treatment)

Predictive (prognostic, intervention, planning)

Screening (newborn, selected population, carrier)

Pharmacogenetic (individualized medicine)A Brave New World? For $999

Welcome to 23andMe, a web-based service that helps you read and understand your DNA. After providing a saliva sample using an at-home kit, you can use our interactive tools to shed new light on your distant ancestors, your close family and most of all, yourself. Or for $2500 + $250/yearPersonalized Medicine?!Navigenics Health Compass : understand what your genes have to say about the future of your health, and gives you action steps to take control of your health today - so you can have a healthier tomorrow. Navigenics Health Compass membership give you an analysis of your predisposition for a variety of common conditions, and the information, support and guidance to know what steps you can take to prevent, detect or diagnose them early. scan of your whole genome, carried out by a laboratory certified according to strict government standards, that captures data on 1.8 million of your genetic markers.

24/7 access to our Genetic Counselors to help explain what your genetic analysis means and support you in knowing how to take next steps Three Main Reasons Why Genetics is Ethically Interesting1. Genetic information often identifies risks of medical conditions that dont yet affect the patientThe at risk patient

2. Genetic information is about families as well as individualsAs such, it sometimes doesnt fit well into our usual individualistic ways of thinking about consent, confidentiality, etc.

3. Genetic research is commercially driven to a very substantial degreeThis raises questions about whether it is legitimate to allow genes to be owned and what people should expect in return for participating in genetic researchSome Issues Raised by Genetic TestingRisks of being testedProblems posed by public conceptions of geneticsProblems with confidentiality & consentCommodifying our genes

1. Risks of Being TestedPsychological

If positive for a bad mutation:Burden of knowing you have the predisposition, particularly if no treatment is availableGenetic determinism: possible overestimation of likelihood of actually becoming afflicted The situation with Huntingtons is not typical

If negative: Evidence of survivor guilt in some casesPossible over-confidence E.g., thinking you wont get breast cancer because your test for BRCA1 & 2 came out OK

More Risks of Being TestedPracticalEmploymentLife insuranceHealth Insurance (more important in US)

Is it fair for companies to take genetic information into account when making hiring decisions or decisions about whether to insure a person?

Do these risks justify being paternalistic regarding who is given a genetic test, as DeGrazia suggests (pp. 474-490)?Traditionally, tests have not been given without genetic counselling, although this is likely to change.Recall the Rule of Justified Paternalism2. Popular Beliefs about GeneticsGenetic Determinism: The common misconception that all genes work like the gene for Huntingtons, i.e., the idea that having a particular gene will guarantee having a particular trait

Huntingtons is an atypical example

For the most part, having a particular gene mutation will just increase your chance of developing some trait, not guarantee it.

Furthermore, most genetic conditions are the result of a number of different gene mutations (as well as interactions with the environment)

We are unlikely to discover the gene makes you good at math3. Confidentiality & ConsentIn medical ethics, a great deal of importance is placed on the idea of individual informed consent

One aspect of this is that your personal health information is not supposed to be released without your consent

But the nature of genetic information sometimes gets in the way of this

Finding out genetic information about you also reveals genetic information about the people youre related to

Case: Confidentiality & HuntingtonsSuppose there is a known history of Huntingtons in your family, but you dont want to know whether you personally carry a mutation for Huntingtons.

Your son does, however. He gets tested and discovers that he has a mutation for Huntingtons. This almost guarantees that you also carry such a mutation.

We have discovered personal information about you without your consent

How should we deal with this? Should we put restrictions on who your son can reveal this information to?

Confidentiality & Duty to WarnMost ethicists agree that, while confidentiality is important, there are situations in which confidentiality can be broken

The most common example involves a duty to warn

E.g., a psychiatrist who is told by one of his patients that the patient plans to kill his wife tomorrow

Is there a genetic duty to warn?

Must we warn family members who are at risk?Should we warn employers if a person possesses a genetic mutation that may someday pose a threat?E.g., the bus driver at high genetic risk of heart failureCase Study: BRCA 1 & 2About 5-10% of breast cancer is thought to be hereditary

It has been discovered that those women with particular mutations in the BRCA 1 or 2 gene are at an elevated risk of contracting breast cancer

Without these mutations: 2% by age 50, 7% by age 70With the mutations: 33-50% by age 50, 56-87% by age 70Note: information is from Myriad Genetics website

14Those with the relevant BRCA 1 or 2 mutations are also at an increased risk of contracting ovarian cancer.The image indicates the BRCA 1 genes place on chromosome 17 (17q21)4. Commodifying GenesThe Myriad example raises a number of questions regarding the commercialization of genetic research

Is gene patenting ethically acceptable?If our genes are a valuable commercial resource, should we be paid for them?Are genes property or person?

DefinitionsGenetic ProfilingUsing technology that interrogates the whole genome to develop a profile of a large set of genetic information that provides information about complex phenotypes

Personalized MedicineUsing information to tailor health interventions specifically to individualsThe Current RealitiesResults from genome wide association studies are being published for complex traitsThese results will be reported/interpreted as identifying genetic profiles for disease risk/susceptibilitySome results will be replicated, some notConsumers will be able to get genetic profile data from:Direct-to-Consumer Genetic Testing (e.g. 23andme)Whole genome/targeted sequencingWho will have this information?Near Future:Participants in GWAS/Sequencing StudiesPeople who order Direct-to-Consumer products (23andme, DNA Direct, others)

More Distant Future:Patients with specific disorders may possibly obtain data through clinical tests

Who will not have this information?Low-income patients/patients without insuranceIndividuals in the developing world

Predictive testing in children3 key arguments against testing:1. Testing fails to respect future autonomy2. Testing young people breaches confidentiality3. Testing may cause psychological harmsFamily bondsImpact on self-esteem and feelings of adequacyBut: little empirical evidence for either position19Prenatal testing & minor conditionsTraditionally, PND offered for serious genetic diseasesEarly onset, poor prognosis, low quality of lifeNow: less risk in testing; more genes knownPND sometimes offered for:achondroplasia, deafness, BRCAWhat should be taken into account in deciding whether to perform PND?Medical opinion?The lived experience of the condition?20Misattributed PaternityGenetic testing sometimes throws up unexpected information, eg misattributed paternityShould people be given unexpected non-medical information they have not requested?Increase autonomy by having full information?Fathers right to know?Potential for harm?Scope of clinical genetics services?Who should be told?21 Context Issues

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