Defining Disease & Genetic Testing

Defining Disease &Genetic Testing PHL281Y Bioethics Summer 2005 University of Toronto Prof. Kirstin Borgerson Course Website: www.chass.utoronto.ca/~kirstin

Announcement • http://www.artsandscience.utoronto.ca/ current/exams/august.html • Monday, Aug.15th 7-10pm GB 304 • GB = Galbraith Building (35 St. George)

Overview • Defining Disease • Geneticization and prenatal genetic testing (Lippman) • 3 arguments against prenatal genetic testing and selective (genetic) abortion (Kass) • 1 argument for genetic testing and preventing conception (Purdy)

Defining Disease • Why? • Disability and disease • Disease states give rise to special claims on society • Disease may be misused – blaming the individual for social problems or blaming society for individual problems • We want to cure disease, but we may end up trying to ‘cure’ diversity and difference

Disease • ‘Drapetomania’ (19th century) – the disease causing slaves to run away • ‘Dysaesthesia Aethiopis’ (19th century) – hebetude of mind and obtuse sensibility of body – a disease peculiar to negroes [sic] – called by overseers ‘rascality’ • ‘Hysteria’ in women throughout history • As recently as 1980 - DSM-III, as a personality--invariably female--described as histrionic, prone to exaggeration, shallow, demanding, seductive, egocentric, romantic, and manipulative • Numerous writers have traced this to a caricature male medical view of femininity

Disease • Example 1: masturbation • Moral undertones to classification (‘you are deviant/bad’ to ‘you are ill/defective’) • Sexual overindulgence was generally considered debilitating - Hippocrates • Masturbation in particular was widely accepted as a disease from about 1700 • Held to be the cause of: dyspepsia, constrictions of the urethra, epilepsy, blindness, vertigo, loss of hearing, headache, impotency, loss of memory, irregular action of the heart, rickets, leucorrhea in women, chronic catarrhal conjunctivitis, nymphomania in women, changes in external genitalia… and studies ‘demonstrated’ links to insanity, consumption, and general debility – and even death • Treated with: restraining devices, infibulation, circumcision, acid burns, thermoelectrocautery, clitoridectomy, vasectomy, institutionalization (insane asylums), castration, dietary changes, sexual intercourse…

Disease • Example 2: homosexuality • Originally classified as a psychological disorder (declassified from the DSM in 1973) • When homosexuality was identified as a disease: • Criminalization • Forced ‘cures: hypnosis, aversion therapy (nausea producing drugs), electric shock, castration…

Defining Disease • Definition of disease: • Naturalist – value-free, deviation from species-typical functioning • Ex// mammal • Normativist– value-laden, matter of subjective evaluation and experience (socially and culturally influenced) • Ex// weed • Illness/disease

Defining Disease • Merck Manual of Diagnosis and Therapy / Diagnostic and Statistical Manual of Mental Disorders (DSM) IV • Medicalize = “To give a medical character to; to involve medicine or medical workers in; to view or interpret in (esp. unnecessarily) medical terms” (OED) • "Since disease is such a fluid and political concept, the providers can essentially create their own demand by broadening the definitions of diseases in such a way as to include the greatest number of people, and by spinning out new diseases" Lynn Payer Disease Mongering

Disease Mongering? • Ordinary processes or ailments as medical problems • Baldness, pregnancy, menopause, aging, infertility • Mild symptoms as serious disease • Irritable bowel syndrome, chronic fatigue syndrome • Personal or social problems as medical ones • Social phobia , criminal behavior, drug dependence, eating disorders, alcoholism • Risks conceptualized as disease • Osteoporosis (reduced bone mass), high blood pressure, high cholesterol • Disease prevalence estimates framed to maximize the size of a medical problem • Erectile dysfunction, female sexual dysfunction, hyperactivity in children/ ADD/ ADHD, PMS/ PMDD (Pre-Menstrual Dysphoric Disorder), depression

Implications and Discussion • Profit and disease • Can we get rid of the social element in our definition of disease?

Genetic Testing - Context • Prenatal diagnostic techniques • In the last 20-30 years, vast increase • Ultrasound is now customary in North America (despite evidence indicating it is not necessary for normal low-risk pregnancies) • Amniocentesis • Chorionic Villus Sampling (CVS) • Often implicit assumption of abortion will follow from diagnosis of a fetal abnormality • Prenatal treatment (promised)

Justice and Genetic Testing • Lippman • North American Culture • The illusion of choice and control

Disease • Lippman (16) talks about the social construction of disease categories • This is extended to an analysis of the social construction of medical ‘needs’ • Ex/ prenatal testing • In recent years it seems as though both diseases and medical needs are being shaped by talk of genetics (metaphor of ‘blueprints’)

Geneticization • Geneticization = “the ongoing process by which differences between individuals are reduced to their DNA codes, with most disorders, behaviors and physiological variations defined, at least in part, as genetic in origin” (19) • Ties to medicalization • Emphasizes genetic determinism • Promotes scientific/technological control of the body • Individualizes health problems • Identifies and categorizes individuals according to their genes • Genetics is ‘the’ way to explain health and disease

Why is this a concern? • Resources diverted from more serious diseases and ‘real’ needs (opportunity costs and economic waste) • Obscures social & economic determinants of health • Ex/ low birth weight more likely caused by factors other than genetics (poverty, for instance) • Low tech. health solutions are ignored though they are often cheaper, simpler, and more effective • Nutritional, hygienic, social, economic, political and other supportive services

Why prenatal testing? • Reassurance for Women • Reasons of Reproductive Autonomy • Expanded reproductive choices and control for women • Public Health Reasons • Decreases frequency of birth defects in the population • Underlying assumptions?

1. Reassurance: Constructing ‘Needs’ Features of childbearing in North America that shape ‘needs’: • Major responsibility for family health, especially of children, allocated to women (27) • Pregnant woman is expected to produce a healthy child, and to do everything for the fetus • If a woman doesn’t choose prenatal testing, it can easily be seen as negligent – because the technology exists, burden of not doing enough • Pregnant woman are bombarded with behavioral directives, which foster a sense of incompetence and a need for external verification • Women as ‘uterine environment’ that must be tested to ensure adequate adherence to rules about smoking, drinking, eating, exercising, taking medication, etc. • Pregnant women classified as ‘high risk’ (those over 35, for example) feel extra social pressure to test • As more ‘at risk’ women get tested, risks seem more ominous (though the frequency of, for example, Down’s syndrome, has not changed)

Reassurance • It would probably reassure many pregnant women if they had guaranteed access to: • Nutritional, social and other supportive services • Funding for home visitors, respite care and domestic alterations • And if they knew treatments and medications were under development for disorders and diseases affecting infants • Suggestion: ‘map’ and ‘locate’ most significant causes of disease (ex/ low birth weight & prematurity)

2. Reproductive autonomy? • Prenatal testing is sold as offering women more control and choice • But who actually gains more control over pregnancy? (Obstetricians, geneticists, insurance companies, governments, society) • Prenatal diagnosis cannot be an autonomous choice when no alternatives are available • Ex/ What if prenatal screening becomes available for PKU but there is no insurance to cover diets for kids with PKU (in USA). How real is this choice? • The social context is such that no alternatives are available (especially to those less educated, and especially in light of the lax informed consent requirements in this area)

3. Public Health? • Reduce the frequency of birth defects • Inflated ‘need’ • Value judgments and eugenics?

Justice • Often focus on distributive justice so it all becomes about increasing choice and control • Ex/ make sure everyone has equal access to genetic testing • At cost to social justice, corrective justice • Ex/ Are people generally doing better as a result of genetic testing? Does genetic testing exacerbate or improve on the inequalities traditionally arising in health care? • Need greater balance • Wolf

Kass • 3 arguments against prenatal genetic testing and selective (genetic) abortion: • Equality of the Fetus • Equality of the ‘Genetically Abnormal’ • Slippery Slope

1. Equality of the Fetus Argument • Human beings are (radically) morally equal: all possess certain fundamental rights, including the right to life • Aborting a fetus because of a genetic defect denies the fetus’ radical moral equality • Therefore, genetic abortion is morally impermissible

Objection • Equivocation Human Being = genetic / biological human Human Being = moral person

Reply • Deeper problem of equality persists. The reason given for aborting the fetus is now ‘because of genetic defect’ which implies that the decision about whether to abort lies on different grounds than in standard cases of abortion • In other words, even people who believe the value of a fetus is very low (close to zero) are meant to be committed to a principle valuing all fetuses equally at this (low) level. Aborting one fetus and not another for reasons of genetic disease implies a difference in value • Unless… • May be justifiable if the decision is made ‘because of a quality of future life assessment’ • ‘Potential persons’?

2. Equality of the ‘Genetically Abnormal’ Argument • If genetic abortion is common practice, then we will think that those living with genetic defects ought not to have been born • If we think that those living with genetic defects ought not to have been born, then we will not treat them with full moral respect • To adhere to our belief in the radical moral equality of all human beings, we must treat all human beings with full moral respect • Therefore, to adhere to our belief in radical moral equality, we ought not to accept genetic abortion

Objection • Objection: speculative empirical claims • ‘we will think those living with genetic defects ought not to have been born’ • ‘we will not treat them with full moral respect’ • Reply?

3. Slippery Slope Argument • Genetic testing and genetic abortion are morally permissible • Genetically defective humans should not be born [from 1] • The genetic character of a defect is an accidental or morally irrelevant feature of the defect • Therefore, defective humans should not be born [from 2,3] • Therefore, defective humans should be eliminated [from 4]

Eugenics Application of the principles of genetics to the production of ‘improved’ offspring

Eugenics – 1915 New York

So… • Can we draw a line between prenatal genetic testing and genetic abortion? • Or between genetic abortion and a principle of ‘eliminating defective newborns’? • Or between the principle of ‘eliminating defective newborns’ and eugenics? • Or…

Purdy: Genetic Testing and Reproduction • Huntington's Disease (HD): “a devastating, hereditary, degenerative brain disorder for which there is, at present, no effective treatment or cure. HD slowly diminishes the affected individual's ability to walk, think, talk and reason. Eventually, the person with HD becomes totally dependent upon others for his or her care. Huntington's Disease profoundly affects the lives of entire families -- emotionally, socially and economically… • Early symptoms: depression, mood swings, forgetfulness, clumsiness, involuntary twitching and lack of coordination • Later symptoms: concentration and short-term memory diminish and involuntary movements of the head, trunk and limbs increase. Walking, speaking and swallowing abilities deteriorate. Eventually the person is unable to care for him or herself. Death follows from complications such as choking, infection or heart failure”

Huntington’s Disease • “HD typically begins in mid-life, between the ages of 30 and 45, though onset may occur as early as the age of 2. Children who develop the juvenile form of the disease rarely live to adulthood… • HD affects males and females equally and crosses all ethnic and racial boundaries. Each child of a person with HD has a 50/50 chance of inheriting the fatal gene. Everyone who carries the gene will develop the disease. In 1993, the HD gene was isolated and a direct genetic test developed which can accurately determine whether a person carries the HD gene. The test cannot predict when symptoms will begin. However, in the absence of a cure, some individuals "at risk" elect not to take the test” (Huntington’s Disease Society of America (www.hdsa.org))

Reproductive Threshold • Moral Minimalism – “it is morally permissible to conceive individuals so long as we do not expect them to be so miserable that they wish they were dead” • Puts no demands on us • Not many people would want to live in a world where this was the prevailing standard • Doesn’t pay much attention to human well-being • Minimally Satisfying Lives – “we ought to try to provide every child with something like a minimally satisfying life” (523) • Minimally satisfying = many elements. Purdy focuses on ‘health normal for that culture’ (for this argument) • Huntington’s disease does not meet this standard (in virtually all societies) according to Purdy

Purdy’s Argument • We ought to provide every person with a minimally satisfying life [from Utilitarian or Contractarian moral theory] • People with HD* are unlikely to live a minimally satisfying life [empirical claim] • People currently living with HD are at high risk of passing on HD to their children • We ought to prohibit people currently living with HD from having genetically related children • People currently living with HD are morally obligated to prevent the conception of genetically related children (or test for and abort fetuses with HD) *Huntington’s disease is used here but may be replace by any other genetic disease that we know to be the cause of a life that is not minimally satisfying as defined by Purdy

Analysis • Objection: Right to reproduce • What reasons do we have for this right? • Love, companionship, shaping a new generation? • Reply: adoption, AI, egg donation, IVF, cloning • Immortality, mini-me? • Reply: narcissistic? false? • Objection: Right not to know • Defensible only when ignorance does not put others at serious risk • Implications?

Genetic Engineering • Treatment • Enhancement

Contact Prof. Kirstin Borgerson Room 359S Munk Centre Office Hours: Tuesday 3-5pm and by appointment Course Website: www.chass.utoronto.ca/~kirstin Email: kirstin@chass.utoronto.ca

Defining Disease & Genetic Testing