Individuals should be free to make their own informed choices on matters that affect them. They should have a right to have their wishes respected, their decisions supported and their privacy protected.

Who should have access to genetic testing? Family-centred counselling and testing, and population screening. What is the role of genetic counselling in each of these contexts? Testing without information, testing without consent. Is there a free choice when there is not enough information? Who should give and sign consent forms when the consultand is not legally competent (children and adolescents, cognitive impairment)? Factors affecting psychosocial and ethical issues in pre-symptomatic testing (age-at-onset, severity, prevention and treatment). What should be the age-threshold when testing pre-symptomatically for late-onset diseases? If prevention is still not possible, but some form of treatment already exists, what difference does it make? Pressure form third parties (parents, spouses, friends and relatives, attending physician, employers, insurance companies). What can be done to prevent it? Personal freedom versus familial choices and society interests. Should moral duties be enforced by others or society (law)? Can parents be refused knowledge about the genotype of their own children? What rights do children have and how can these be protected? Coercion for testing and termination of pregnancies at risk by health providers and insurance companies. Problems created by late reversal of a decision to terminate a pregnancy of a carrier foetus for a late-onset disorder. What can be ethically done to avoid them? Genetic testing in particular social and cultural settings. How should one proceed in communities where genetic counselling and psychosocial support are not available or easily accessible? Is there really a free choice in small, isolated, face-to-face communities?

2. Right to complete, accurate information

Potential candidates for testing should be made fully aware of all genetic services available to them, as well as of the psychosocial and ethical issues surrounding genetic testing. Health professionals have a duty to inform both the general public and the media of our current scientific knowledge and technical capacities, as well as of its present limitations.

Pre-symptomatic and susceptibility testing, relative-risk and population-shared risk. What kind of information must be provided in a medical setting (medical condition, inheritance, genetic risks, laboratory testing, alternatives available)? Diagnostic and predictive testing for monogenic diseases and susceptibility genes – what are the major ethical issues involved for each of them? What predictability should consultands expect from genetic testing (how predictive is predictive)? Reliability and accuracy (sensibility, specificity and predictive value) of a genetic test. Over-the-counter testing and interests from commercial companies. Are there any tests that can be safely provided by direct marketing (by pharmacies and drugstores, in supermarket shelves)? In what degree will increased technical facilities decrease autosellection by less-well prepared consultands? How are they affecting interests from commercial companies in genetic testing? What changes are to be expected with the widespread use of DNA chips in genetic testing? What are the duties of public and private genetic centres engaged in genetic testing? Who should supervise their activities and assure the quality of their services? Can private companies provide adequately pre-test counselling and post-test follow-up and support? Will they be interested in doing so? Where to find information about services available? How to promote scientific and ethics education of the greater public? What is the role of the media?

3. Right to privacy

The strictest confidentiality and the respect of promises made (fidelity) are mandatory to preserve the consultands privacy, as well as their confidence in the consultants and in the process of genetic testing.

In the family, at the workplace, at health care services, by insurance companies, in the community. Who may ask for pre-symptomatic and predictive testing? Must genetic results on asymptomatic individuals be shared with the attending physician? Should information about genetic tests and its results be entered and kept in hospital records? Desirability of individuals sharing genetic information with their relatives. Is there a duty to circulate information inside the family? Contact between physicians and families. The role of self-help associations; privacy within patient associations. Is there a right not to be informed? Potential conflicts inside the family and between generations. Lack of co-operation between relatives (share information, contribute blood sample). Unwanted (unforeseen) disclosure of genetic information from test results on a relative (MZ twins, 25% risk, prenatal diagnosis). Sharing of test results with spouses and other relatives. Are there any exceptional situations in which the free and informed choices of individuals should be overridden by other needs or obligations? Are anonymous samples and pseudonyms necessary and acceptable?

4. Right to good, efficient health care

Genetic testing cannot be provided without all the necessary information provided through genetic counselling, and without the psychosocial evaluation and support appropriate for each case and condition.

The duties of physicians and health professionals. Duty to be informed and up-to-date with new genetic knowledge, main ethical and international recommendations and guidelines. How should we proceed when and where genetic counselling and psychosocial support is not readily available? What is the role of national, international and supranational organisations in controlling good practice by genetic services and labs, and promoting quality assurance in the whole genetic testing process? Solidarity versus mutuality. How should society prepare itself to answer the special needs of genetic patients and their families? What duties of welfare does the state have? What are the responsibilities of the life and health insurance industry? Is there a free choice when the consultands have to pay genetic counselling and testing, due to lack of a social welfare policy or the fear of breach of privacy if one has to rely on payment by health insurance companies? What political issues are involved? What is the role of political measures and education in improving the general health of the population, promoting healthy lifestyles and decreasing environmental hazards for common adulthood disorders?

Right to non-discrimination

Individuals have a right to refuse genetic testing. Individuals affected or at-risk for genetic disorders have the right to reproduce independently of genotype. Genetic patients, with increased needs, have a right to medical care and social solidarity. All individuals regardless of genotype should be equally treated in their access to healthcare and in their right to work.

The genetic testing of children. Reproductive choices. What sort of care should be provided to genetic patients and their families? What kind of preventive measures should be made available to the genetically susceptible? Genetic testing in the workplace. Testing in the context of high-risk professions (to the employee or to others). Should employees be tested for susceptibilities to hazardous work environments? Who should ask for such testing? What kind of rights and guaranties should be assured to the genetically susceptible? The insurance industry and genetic information. What should be considered genetic information? Is family history genetic information? Should it be treated differently from the actual results of a genetic test? Is it ethical for insurance companies to establish lower premiums to the “genetically healthier”? Can insurance companies refuse to cover expenses with a patient if prenatal testing is done and termination refused? What can be done to avoid social stigma when testing in face-to-face communities for locally prevalent genetic disorders? International guidelines and recommendations, and the law. What kind of legislation do we need?


Documento de trabalho preparado pelo investigador Jorge Sequeiros para a Conferência “Issues in Human GenEthics”
(Org. SPGH & British Council; Lisbon, 2000)
June 2000

Jorge Sequeiros
Ethics Committee,
SPGH (Portuguese Society of Human Genetics)