Legal and Ethical Aspects of the Participation of Persons with Restricted Active Legal Capacity in Genome Studies
Krikmann, Ulle, Kruuv, Krista, Herodes, Marju, Sild, Tarmo, Zmenja, Marika, Talvik, Tiina, Tikk, Arvo, Trames
The goal of the Estonian Genome Project is to establish a database (the Gene Bank) consisting of phenotype and genotype data of the majority of the Estonian population (1.4 million inhabitants). On the basis of the data stored in the Gene Bank it will be possible to acquire new knowledge concerning the cause and pathogenesis of common diseases. At different periods of the elaboration of the Estonian Genome Project there have been different topics of ethical debates, the engagement of people with restricted active legal capacity as well as the lowest age limit of persons participating in the Project among them.
According to the General Part of the Civil Code Act of the Republic of Estonia (2002), persons who have attained 18 years of age (adults) have full active legal capacity. Persons who are under 18 years of age (minors) and persons who due to mental illness, mental disability or other mental disorder are permanently unable to understand or direct their actions have restricted active legal capacity. The legal representatives of a person under 18 years of age are his or her parents; the legal representative of a person with restricted active legal capacity is his or her guardian. It should be mentioned that pursuant to the Estonian Act on Human Genes Research (2001), the consent of legal representative does not suffice, if the person him- or herself is opposed to providing a tissue sample or to the collection of descriptions of his or her state of health.
The present article will discuss the positive and negative sides of including the persons with restricted active legal capacity (incl. children) in the large scale population-based gene studies, as well as its medical, juridical and ethical aspects.
2. Medical aspects
The possible advantages and disadvantages of genome studies
First, it should be stressed that at the present day genome projects are research projects without direct therapeutic element. Relying on their results it could be possible in the future to introduce the principles of preventive medicine. So far, the discussions have been mostly centred on predictive testing which is usually conducted to ascertain the monogenic disease that has appeared in the family. Population-based study is focussed on identifying the genes that are responsible for diseases prevalent in the society (polygenic and multifactor diseases), could be avoided with prophylaxis (proper way of living) and can be treated. So far, the only possible advantages and disadvantages for genetic research have been cleared up and reported for predictive testing and, though not always, they could be indirectly relevant also in the case of genome studies. The possible advantages of predictive testing that have been proposed are: 1) uncertainty about having the disease can be minimised; 2) anxiety about possible early signs of the disorder can be relieved; 3) it can eliminate the need for more expensive and less accurate tests in the future; 4) more accurate genetic counselling becomes possible, also children who might benefit from genetic counselling in the future will be identified; 5) family uncertainty about the future can be reduced; 6) planning for the future and a more suitable lifestyle, education and career can be more practical; 7) the person's expectations for the future can be more realistic; and 8) it is easier to accept a person's carrier status and incorporate into his or her identity; and 9) the person's attitude towards reproduction will be more responsible (Working party of the Clinical Genetics Society 1994:785-797; American Society of Human Genetics 1995:1233-1241, Chan 2001:50-52, Paulson 2002:627-646). The potential psychosocial risks testing, especially in childhood, includes 1) the child's right to decide whether or not to be tested in adulthood will be removed; 2) the possibility to damage the child's sense of self-esteem and get stigmatised associated with genetic abnormality, even in the absence of phenotypic abnormality; 3) the potential for inhibiting parent-child bonding; 4) disruption of normal family relationships because of guilt on the part of parents or on behalf of the unaffected siblings (so-called survivor guilt); 5) the potential for a variation of the "vulnerable child syndrome"; 6) modification of parental expectations (often subconsciously), also parents may start to treat their child as diseased/disabled (genetic discrimination); 7) possible future difficulties in obtaining a job and life insurance (Working Party of the Clinical Genetics Society 1994:785-797, American Society of Human Genetics 1995:1233-1241, Chan, 2001:50-52). …