An International Interdisciplinary Reflection on the Subject ‘the Human Genome’

The XX international conference organised by the Pontifical Council for Health Pastoral Care, which this year wanted to explore a particularly broad topic that is experiencing the impact of new research and discoveries, namely ‘The Human Genome. Biological, Medical, Theological, Pastoral and Ethical Perspectives’, was held on 17-19 November 2005 in the Hall of the Synod in the Vatican. About seven hundred participants from eighty-one countries took part in this international conference: Cardinals, Archbishops, Bishops, men and women religious, secular figures, amongst whom scientists, medical doctors, philosophers and theologians, all involved in various capacities in the health-care world, as well as students of medical schools, of the nursing sciences, of theology, and of pastoral care in health. The speakers at the conference represented seventeen countries: Italy, England, Greece, France, Burkina Faso, the United States of America, Iceland, Holland, Colombia, Germany, Spain, India, Japan, Slovakia, Cuba and Mexico.

The President of the Pontifical Council for Health Pastoral Care opened the proceedings during the session chaired by Rev. Angelo Serra SJ, Professor Emeritus of Human Genetics at the Catholic University of the Sacred Heart of Rome. In the prolusion he engaged in a reflection on ‘The Origin of Life and Theology’, which acted as a frame for the whole of the conference. Cardinal Javier Lozano Barragán referred to the definition of health as ‘tension towards harmony’: ‘if life begins in the genome and life is identified with health, then health, too, begins in the genome and in the genome we must find virtually all harmony. That is to say, in the genome we find the beginning of this tension, which constitutes health’. The ideas of the prolusion were developed around three points – the scientific, the philosophical and the theological. In discussing the scientific aspect, the President of the Pontifical Council examined the inner constitution of DNA with emphasis on the genes and as a conclusion stressed that life is a complicated order of mutual relationships between the ultimate biochemical components. At a philosophical level, reflecting on this reality, he pointed out that this order means a complement founded on the opposition of contrariety that conjoins the various elements in a mutual giving to meet their own needs. At a theological level, Cardinal Barragán showed us how this order and opposition of contrariety is realised without any privation in the most Holy Trinity and how the contradiction of death is defeated by God in the Redemption through the death and Resurrection of Christ. He thus concluded by observing how life from the scientific, philosophical and theological levels appears as a mutual and reciprocal giving of love.

During the first stage of the international conference – ‘Reality’ – the current situation of genetics was examined in the following order: genomic and post-genomic genetics, genetic errors and congenital illnesses, monogenic, polygenic and plurifactorial illnesses, predisposition to cancer and to latent illnesses, medical care for sick people and their families, judgement, error and negligence, the genetic aspects of foetal-maternal medicine, the genetic screening of populations, and gene therapy. In addition, the questions and issues relating to human genetics and its international juridical status, to genetic research, and to international co-operation, as well as the prospect for development on the field of human genetic diseases from the point of view of the World Health Organisation, were also studied.

The second stage of the international conference – ‘Illumination’ – was addressed from the point of view of Revelation, with attention being paid to such questions as the history of human genetics, the ethics of medical genetics, the liberal ideology of eugenics and the ethics of medical consultation in the field of genetics, as well as, in conclusion, the post-modern vision of genetics. Especial interest was generated by the reflections on the human genome, and the questions and issues connected with it, from the point of view of Judaism, Islam, Buddhism and Hinduism.

During the third stage of the international conference – ‘Action’ – attention was focused on the pastoral vision of genetic research. Within this context the following subjects were examined: medical genetics and ethics committees in hospitals, law and genetics, society and genetic illnesses, the training and the updating of pastoral workers in relation to genetics, and, lastly, the prevention of genetic illnesses.

As regards the contents of the papers that were given, one can:

a) from the point of view of the current situation, make the following observations:

• Genetics or the science of heredity which allows us to understand our connections with our relatives and to explain the primum movens of some unknown illnesses is a bridge discipline with other branches of medicine and biology.
• In less than two hundred years, with the advance of knowledge represented by Mendelian genetics and the subsequent development of molecular genetics, genetics took massive strides forward, thereafter moving towards genomic medicine and its study of the structural and functional aspects of the genome.
• Current studies on DNA could lead in the future to the creation of therapies with genomic bases for pathologies such as Alzheimer’s disease, diabetes, hypertension, asthma, epilepsy, obesity, and cancer. With respect to these pathologies it is necessary to bear in mind not only the genetic factor at the level of predisposition (the genotype) but also the factor of the environment (the phenotype), for example diet and lifestyle, which play a very important role.
• A genetic test allows the establishment of a diagnosis and a prognosis in relation to a specific illness and an estimation of the risks of contracting it, as well as an identification of the heterozygotes (or carriers) of a specific pathology.
• From the point of view of diagnosis, genetic tests are especially important because they produce genetic information that is of a uniquely specific kind compared to almost every other form of biological information, thereby offering a result that cannot be separated from the personal identity of the person who is examined.
• The positive aspects of genetic tests are:
  • Greater understanding of human nature and its meanings.
  • Philogenetic relationships with other species of primates.
  • A study of the structure, organisation and function of complex genomes, in particular in relation to characteristics that involve a high level of integration, such as learning and intelligence.
  • The identification and isolation of genes for the purpose of establishing a diagnosis for illnesses that emerge early or late in life.
  • Screenings of people who are carriers of recessive pathological alleles in populations at risk.
  • Genetic tests in the work context.
  • Personal identification and paternity tests for legal purposes.
  • Gene therapy.
• The negative aspects of genetic tests are:
  • A scientific culture that fosters an ideology of eugenics.
  • Genetic determinism.
  • Discrimination on the basis of a person’s genetic make up.
  • A reduced autonomy as regards choices in relation to reproduction.
  • The marginalisaton and selection of individuals with genetic anomalies.
  • Non-observance of the principle of parity in treatment.
  • A process of ‘deresponsibilisation’ because of a genetic predisposition to socially relevant forms of behaviour.
• Advances in the ability to make diagnoses are not always matched by a parallel increase in solutions at the level of therapy.
• From an epidemiological point of view, genetic illnesses constitute today one of the principal causes of death, illness and hospitalisation, and constitute a notable social problem.
• From an ethical point of view, gene therapy, at the level of its implementation, requires respect for the rules envisaged in the protocols for every experimental therapy.

b) In the light of the Word of God, pastoral care, ethics, the religions of the world and post-modern culture, the following points were emphasised:

• Genetics helps to reveal the wonderful and fascinating message that God since Creation has written into human nature (cf. The Book of Genesis).
• The Book of Genesis and genetics are conduits for the same message of love that comes from God Himself. The Book of Genesis illuminates genetics and genetics explains the genesis in various ways. The explanation provided by genetics remains limited because the reasons for the origin of man elude it.
• The genome does not pre-determine a human being; man is deeply dependent on God who has bestowed a soul upon him, that is to say that spiritual substance that gives assistance to the genome and is at the origin of the faculties specific to man, namely intelligence and freedom.
• Created in the image and likeness of God, man carries within his humanity the mark of his transcendental vocation which confers on him the capacity and the responsibility to live in love and communion.
• The possibilities that are offered by study and research in the field of the genome must be monitored in order to see whether they act to protect and promote human life, to improve its potentialities and to defend important ethical values.
• Human beings find the meaning of their lives not in genes but in how with their ‘nature’ they approach social, personal and religious relationships.
• If the science of genetics is understood in strictly utilitarian terms, it stresses economic efficiency, thereby limiting man to his physical horizon, reducing him to being a thing and losing the transcendent perspective of his existence.
• Faced with certain ethical questions raised at times by the advance of biotechnologies that concern human existence, the salvific-sacramental mission of the Church calls us to focus upon the anthropological and ethical basis of these questions in order to assure man that the hand of God is at the origin of his history and continues to invite him to the responsible exercise of his freedom.
• Judaism, Islam, Hinduism and Buddhism recognise that the ‘human soul’ has a spiritual function; it belongs to the transcendent sphere of existence which involves the spiritual faculties. It is thus impossible that the spiritual part of man is pre-determined by his genes.
• Although post-modern thought opens up the path to the exploitation of man’s genetic inheritance, authentically Christian thought offers the instruments for a better understanding of the human genome and respect for it on the basis of the life and teaching of Jesus Christ who, in accepting out human nature, bestowed upon that nature a spiritual value to be safeguarded.

c) The papers on ‘reality’ made the following recommendations:

• All activity involving genetic research should always have as its ultimate aim the overall good of man, and in the means that it uses it should respect the inalienable dignity of the person that is in that individual, his right to life, and his substantial physical integrity.
• The human person, his nature, and his consequent dignity, that is to say the overall reality that is objectively man, establishes the norm of his action from his own interiority. It is this interiority that makes up one thing with his ‘biological’ part but transcends it, and, called upon by him, points out to him what is right and good.
• If man is also ‘the one who seeks the truth’, according to the definition of John Paul II (Fides et Ratio, 28), he is bound by precise ethical limits on how the man who seeks for such truth acts. This is because ‘everything that is technically possible is not morally admissible’.
• The extraordinary economic, scientific and research resources must provide a decisive impulse to the human family, avoiding, amongst other negative tendencies, the temptation of biotechnological development for its own sake.
• Ethical committees in hospitals must attend to their educational function, the beneficiaries of which are health-care workers. Knowledge and exploration of the questions and issues of deontology and medical ethics are indispensable for the practice of a health care profession that respects the dignity of the person and his inalienable right to life and the defence of health. The suitably illuminated moral conscience remains the best guarantee of safety for those who work in the sensitive field of health and suffering.
• The genetic profile of every man and every woman is a personal good and knowledge about it by third parties can be justified on therapeutic grounds. The transmission of these data must be explicitly authorised by the person directly involved.
• The on-going education and training of pastoral workers in the field of medical genetics, as in that of bioethics and pastoral care in health, are necessary in order to allow them to provide in a suitable way pertinent and credible answers to the problems that are constantly arising within communities and in particular within families in the wake of biotechnological advance and its consequences for the culture of life.
• The benefits that derive from scientific (genomic) research and its application should be shared within the international community, with particular attention being paid to developing countries, where, indeed, much of this research is carried out.
• Within the context of international co-operation, and as regards the field of genetic research, respect for populations and the promotion of internal solidarity and solidarity between States, and solidarity with individuals, families groups and communities, are to are to be hoped and wished for, with the paying of special attention to those who have been made vulnerable by illness, disability and other personal, social and environmental conditions, and to the less prosperous.

The salient moment of the international conference, which was experienced with great enthusiasm by everyone, was the audience granted to those taking part by the Holy Father Benedict XVI in the Sala Clementina on 19 November. In his address which brought the proceedings of the XX international conference to a close, the Holy Father emphasised some of the most very pressing questions which the Church, and in a special way those who work in the field of pastoral care in health, cannot elude. First of all, the threat of the secularisation of culture which is invading in an increasingly strong way the terrain of the sciences as well, and which requires, as a result, a ‘new impetus of pastoral care in health’ in order to converge its forces, first of all, on the formation of consciences. At this point the Holy Father observed. “If they lack an adequate education, indeed, if their consciences are inadequately formed, false values or deviant information can easily prevail in the guidance of public opinion”.

There can be no doubt that the proceedings of the XX international conference promoted this year by the Pontifical Council for Health Pastoral Care contributed to ‘an instruction and a formation of consciences’, to employ the wise words of the Holy Father. This was ensured by the high professional qualifications of the speakers and the great interest in these questions and issues that was demonstrated by those taking part in the conference. The papers that were given, although of a notable scientific level, were followed by those who were present with keen attention.