The Greek Conference - Crete, May 2004 Papers

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CULTURAL DIMENSIONS OF HEALTHCARE. THE VIEWS OF MAORI IN GENETIC TESTING FOR CANCER SUSCEPTIBILITY

WAIORA PORT and INGRID WINSHIP *

ABSTRACT

Knowledge of the molecular basis of cancer predisposition facilitates genetic testing to fine tune the risk status for individuals within susceptible families. The translation of research into diagnostic testing opens a new dimension of practice through clinical genetic services worldwide. There is a growing body of literature describing the ethical, legal and psychological impact of such testing in a "predictive" setting. Little data exists however, regarding the different views in different cultures, especially the indigenous people of the world

New Zealand's first people, tangata whenua are known as Maori. While there is limited documentation of the country's history by Maori until recent times, the tikanga (culture), whakapapa (genealogy), mate (illnesses) and taonga (treasures) have been handed down in our oral history and remain a strong influence in our lives.

We have undertaken a study of the impact on the cultural domain of testing for a genetic predisposition to cancer. Participants in this research included individuals or families from three groups- the 'stakeholders', scientists, and people from Maoridom with mana (presence/standing) .

The study serves to contribute to an awareness and understanding of some of the issues for indigenous people relating to the incorporation of new technologies into health care. The outcomes of this study are now in use to shape policy for our healthcare services and recommend to whanau (families) a 'best practice' format. It is also hoped that this may provide a new paradigm for the use of other indigenous peoples worldwide.

Glossary of Maori terms

The science of medicine has been redefined by the delineation of diseases at the biomolecular level and the consequent understanding of disease pathogenesis. Research over the past four decades that culminated in the Human Genome Project has facilitated an understanding of the genetic basis of human disease.

As a consequence, a range of new diagnostic and therapeutic processes emerged. There has been recognition of the importance of research and consultation on the ethical, legal, psychosocial and cultural issues arising from biotechnology.

The molecular basis of virtually all single gene disorders is known. These disorders are rare but their cumulative value creates a significant impact in health care. More profound, perhaps, is the increasing understanding of the genetic predisposition to the common complex disorders. To date, knowledge exists of the location in the genome of the approximately 40,000 active human genes; more than half of these genes have not been fully elucidated and their function remains uncertain.

In simple terms, a gene is a code that forms the template for the development of an intermediate product, a protein, which will either have a functional role, e.g. enzyme, or structural role, e.g. collagen in the workings or make up of the human body. Any significant alteration at the level of the gene code (mutation), which in turn alters the protein intermediate, has the potential to interfere with health. This may be a single gene disorder where the likelihood is high that this alteration will manifest, or a predisposition gene that, in combination with other genes and environmental factors, may create a vulnerability or susceptibility to a disorder. There are a number of different ways a genetic mutation (alteration) may manifest. For example, cystic fibrosis is a single gene disorder where a single mutation within the CFTR gene confers carrier status with no overt manifestations of disease.

Two parents contributing a similar mutation within this gene to a child, will cause cystic fibrosis, a multisystem disorder present at birth and identifiable by the presence of its mutation prenatally, or indeed prior to implantation by a newer technique known as preimplantation genetic diagnosis. This is a genetic disorder where there is a high penetrance of the gene, i.e. those who have the altered gene are likely to manifest the disorder. While cystic fibrosis is not common in Maori, it does occur, as do a range of other single gene disorders. In particular, adrenoleukodystrophy, an X linked recessive disorder has had a founder effect, with a family spanning many generations being so affected. In this disorder, boys are affected, while women are overtly healthy carriers.

Many genetic disorders are evident at birth. Some single gene disorders manifest later in life, usually transmitted as autosomal dominant traits, i.e. an affected parent has a 50/50 chance of passing this gene on to his or her offspring. The presence of one mutation is sufficient to cause the disease phenotype.

It is probable that the greater contribution of genetic mutation to the burden of disease will come from the predisposition genes. Those disorders, often common, are described as multifactorial, where genetic changes create a vulnerability; thereafter, gene-gene and gene-environment interactions may culminate to diminish health. The best understood example would be familial cancer, where some 5% of breast, bowel and stomach cancer occurs on the basis of an inherited predisposition.

Affected individuals inherit one copy of the mutation from a parent, there is a 50:50 chance of inheriting such a mutation. This occurs irrespective of gender, even in breast and ovarian cancer. When the gene is transmitted from parent to child, it is probable that a second event has to happen within the affected tissues in order for the cancer to occur. This means that the penetrance of the gene is less than 100%, inferring that those who inherit such a mutation have a high, but not invariable, risk of developing such a cancer. When a specific mutation is known in a family, individuals may undergo testing in advance of the onset of cancer in order to fine tune their own risks. This knowledge facilitates cancer surveillance and early intervention strategies to manage this risk.

Diabetes mellitus is prevalent among Maori, and as the genes underpinning this disorder are elucidated, this will impact significantly on Maori. Already, recombinant technology is used to produce the insulin to treat some 10000 diabetic Maori.

In the provision of diagnostic testing, we can define mutations that give insight into numerous genetic disorders. On the surface, this appears straightforward. While the genetic material of an individual is unique, "Whose genes are they anyway" has been used frequently in discussions about genes and genetics, since genes are shared between parents, children and siblings, deceased relatives and future offspring The identification of a mutation in an individual has additional implications for the nuclear family as well as for the extended family or whanau.

In the everyday practice of clinical genetics, these are some of the issues that warrant discussion:

The use and impact of diagnostic genetic tests (ie to confirm the disease already clinically evident) are very different from the use of genetic tests in disease prediction. Predictive test may be undertaken in an asymptomatic individual,at risk of cancer by virtue of family history. Prediction by prenatal testing (amniocentesis or chorionic villous biopsy) in pregnancy may now be pre-empted by pre-implantation genetic diagnosis. In this testing, not yet available in NZ, a couple may elect to create an in vitro fertilised (IVF) pregnancy, and test the embryo at the 8 cell stage for the disorder at risk. In this way, an embryo free from that disorder can be implanted into the uterus of the mother.

The transfer of all these new technologies into healthcare brings a range of ethical, legal, social, psychological, cultural and religious issues. It is of particular importance in New Zealand that the views of Maori are considered; to many, genes are taonga. There is a growing body of literature on the ethical, legal and psychosocial issues- research into the cultural domain of genetic testing and technologies has been relatively limited to date.

The New Zealand Maori population comprise many tribes, each with their own hierarchy, and each with their own oral history. While there has been very little written history of Maori, there is an oral history that has been handed with pride from generation to generation. While much medical research has focussed on Maori, little of such research has been undertaken by Maori, for Maori. The research outlined in this talk was largely by Maori for Maori, with a specific focus on Maori governance and relevance. The methodologies were a composite of conventional quantitative and qualitative methodologies, as well as Kaupapa Maori, traditional Maori methodologies.

Maori use two words contained in Te Matatiki (1992) a Maori language dictionary of contemporary Maori words, to describe the human genome.

Iratangata refers to the actual genome while Whakapapa refers to what is contained in the genome. The word Whakapapa is the term most commonly used and understood.

In H.W. William's (1975) A Dictionary of the Maori Language, first published in Paihia (far north of New Zealand) in 1884, Iratangata is defined as "the life principle of mortals" while Whakapapa is defined as " to place layers, one upon the other."

Walker (1994) states:

The world view of the Maori is encapsulated in whakapapa, the description of the phenomenological world in the form of a genealogical recital. Implicit in the meaning of whakapapa, are ideas of orderliness, sequence, evolution and progress. These ideas are embodied in the sequence of myths, traditions and tribal histories. They trace the genesis of human beings from the creation of the universe, to the creation of the first woman, and thereafter, the development of culture and human institutions

Walker believes that the indigenous concept of the past and present as a single reality is incorporated in this paradigm and will inform the future struggle for Tino Rangatiratanga (autonomy, self-determination) - (Ref. Walker, R.J., (1994) The Development of Maori History. The New Zealand Historical Association Conference, University of Auckland, 19-22 August, 1994, p.1.)

New Zealand was first discovered for the western world by Abel Tasman in 1642. At this time the country was already inhabited with Maori. Later, through the arrival of James Cook, New Zealand was colonized by the British. In 1840, the Treaty of Waitangi (Te Tiriti O Waitangi) was signed between the British Crown representatives and a group of Maori chiefs. This treaty promises equal ownership of all of New Zealand and its assets to Maoridom and the Crown. Article ll of this Treaty covers DNA, genes and the use of biological material in technology.

"Ki nga tangata katoa o niu Tireni, te tino rangatiratanga o o ratou wenua, o o ratou kainga, me a ratou taonga."

"To all the people of New Zealand the undisputed control over their villages, their land and their precious possessions."

To Maori, family and health and therefore genes and DNA are a precious possession, a taonga.

"A major taonga or precious possession of the Maori is their health. Intangible though it seems to the western mind our people define health, language and the birthright as precious possessions passed to us from our ancestors and which we have an obligation to maintain and preserve for the future of our people." (Ramsden. Irihapeti 1989:2)

In the oral history, we learn that Maori have a deep and intuitive understanding of heredity, including issues of health. Talipes equinovarus, club foot has its highest incidence in Maori, and the inheritance of this disorder is well understood. It is accepted as a part of a family's whakapapa, geneology.

Reseach looking at the experiences of individuals within families with a high incidence of cancer was undertaken. In parallel, Maori individuals with mana (significant social standing) were interviewed for their view on genetic testing and the needs of Maori. A third study group comprised researchers and clinicians of any ethnic group who worked with Maori who had cancer.

A large focus of information has been a family consisting of over a thousand individuals at risk of an early onset form of stomach cancer.

The greatest fear of many Maori is that genetic technology will change whakapapa. Familial cancer has affected some Maori families with tragic consequences and whanau have sought help from scientific and medical professions.

KEY ISSUES EMERGING

1.   Autonomy vs tribal hierarchy:

Most genetic clinics in Australasia subscribe to the model of patient autonomy. This coupled with very strict laws governing privacy of medical information create an environment in which the individual can exercise choice around testing, particularly in a predictive way in cancer. This model does not fit well with many Maori, who feel a collective ownership of genes and genetics.

Decisions about healthcare in general are made collectively, and even greater is the need for consultation within the whanau, and especially with elders, prior to embarking on any sort of intervention that may impact on self as well as nuclear and extended family.

Timing is always an important issue in genetic testing, but time must be allowed for adequate processes of consultation, set to the patient's agenda rather than a clinic booking system.

2.   Testing of children:

The traditional genetic clinic does not usually offer predictive testing to children unless there are measurable health benefits to the child. Many of the families interviewed felt that it was culturally their right to know this information as guardians/ protectors of their most precious assets, their children.

PATENTING OF GENES

There is considerable anxiety in the community about financial gains from genomic information and the patenting of genes has created a number of dilemmas. The view of many of the affected individuals, stakeholders, is that they would wish to share the profits in some way, since without the DNA provided for the research by those individuals, there would have been no research and therefore no invention. It is reasonable that consideration is given to ways that the benefits from such invention accrue to the stakeholders, individually, collectively or by supporting ongoing research into that field.

In one family where the reseach had been undertaken in partnership with the family to find a causal gene for stomach cancer, the patent that resulted from the research is jointly owned by the host institution and the extended family.

MISTRUST

Many Maori interviewed believed that genetic testing was essentially only a forensic tool. Decades of research and discrimination have made Maori fearful of genetic testing as an extended form of colonialism.

STORAGE, TRANSPORT AND DISPOSAL OF DNA

Most Maori believe that there is a spiritual quality to their genes, and that appropriate respect needs to be afforded even in the laboratory.Storage of DNA is in general unacceptable. Consent processes need to elaborate all the stages and processes to which DNA is subjected during its use and disposal. Many people were comfortable with genetic testing within New Zealand, but would not allow their DNA to be transported out of the country for analysis elsewhere.

It has become evident that when we consider genetic testing,"one size does not fit all!" Comments made by elders in the Maori community include the following:

A major area of concerns is that of prejudice. An anxiety exists that a further societal stratification will occur on the basis of the "haves and have nots" of mutations. The ethos of genetic "intervention" is non-directional; to empower fully informed individuals to make decisions that fit with their own values and beliefs. The maintenance of patient safety needs to be balanced with autonomy, or collective family/whanau views as appropriate.

It is essential for the scientist, the healthcare professionals and researchers, legislators and general public to have the opportunity to consider, consult and discuss all of these issues so that scientific progress and humanity can move forward in harmony. In reality, Maori, like all other groups, want the best for themselves and their families. The process of consultation and ongoing dialogue will allow us to shape healthcare services so that they are efficient, technically accurate, and carry minimal intangible harm to those who choose to have genetic testing. We hope that our work will help to establish a new paradigm for the use of other indigenous people worldwide.

* Department of Molecular Medicine, Faculty of Medical and Health Sciences, University of Auckland, New Zealand. This paper was prepared by Waiora Port in conjunction with Ingrid Winship and was delivered by Ingrid Winship.

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Copyright 2004. Greek Legal and Medical Conference