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DRAFT: CONSULTATIVE DOCUMENT ON ETHICAL GUIDELINES ON BIOMEDICAL RESEARCH INVOLVING HUMAN SUBJECTS
( By Indian Council of Medical Research New Delhi )

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2-Statement of Specific Principles of Human Genetics

INTRODUCTION

In no other area of biomedical research there has been a greater concern for ethical issues than in the field of human genetics. While the advent of recombinant DNA technology has provided one of the most powerful tools in the hands of mankind to unravel the mysteries of the human genome, it has also led to a great deal of concern about our ability to handle the information so derived.

Human beings cannot be experimental animals in any field of research. The knowledge about human genes and genetic diseases prior to fifties was so poor that there was hardly any human genetic experimentation. Since then, and especially in the past decade, there has been a veritable explosion in knowledge which has culminated in gene therapy (the ultimate in thereapy for genetic diseases) and various other aspects of genetic engineering.Serious issues related to participation of human subjects in genetic research are raised , particularly when the intervention involves rights of human embryo and subjects who are not competent to give informed consent. Besides the Human Rights issues of dignity, autonomy, and justice, the Human Genome Project (HGP) has also precipitated an unprecedented concern for Intellectual Property Rights. Recent experiments on cloning sheep and monkeys bring human cloning into the realm of possibility, raising Ethical, Legal and Social Issues (ELSI) as important aspects of HGP. This calls for laying down of rules and regulations in a stepwise fashion with the least amount of ambiguity.Special guidelines are required to contain the potential harm without clamping a moratorium on research and service in this field.

PREAMBLE

Clinical Research in fields of Human genetics and human genome, including gene therapy, besides being subject to general ethical considerations of protection from harm and voluntariness of participation has following additional considerations which require special guidelines:-



  1. The harm may not only be physical, but also psycho-social. Psychologically, the genetic information may produce anxiety and depression or damage familial relationship, which should be safeguarded. There is a likelihood of social stigmatisation and discrimination in employment, health and general insurance, which requires much greater care in recruiting subjects in the study, obtaining informed consent and maintaining confidentiality of research findings, than in any other area of research.
  2. There is great importance of spoken word in medical genetics, since genetic counselling is akin to therapy in other fields. In that sense the 'word' is equivalent to drug/intervention in medical genetics. Written explanation understandable to layman about the disease/interventions, and outcome as also the implication of the information generated for progeny and family, has special place in clinical research in this field.
  3. Genetic Counselling deals with the discussion on personal matters such as reproductive options, and the couple has to make choices which have far reaching social implications. It, therefore, calls for special care which should be documented in research proposals carefully considered by Ethical review committees.
  4. Genetic manipulations have consequences for the future, some of which are unknown. Hence, greater care towards potential dangers is necessary.
  5. There is greater likelihood of situations cropping up where there is conflict of interest between an individual, and that of family and society at large. Careful guidelines are needed to be evolved by the peers in the profession to tackle such situations. The professional societies should be called upon to actively participate in these activities.
  6. The science of Medical Genetics is progressing very rapidly. Therefore, there is need for frequent updating of any guidelines for research in this field. To meet this challenge not only the guidelines should be flexible, but there should also be a built-in mechanism to review the guidelines from time to time. The Ethical Review Commitees should have necessary expertise which include knowledge of latest developments. In areas of doubt open discussion shall be encouraged.
  7. Concerned with the misuse of genetic tests, particularly for the preselection of sex, the Government has enacted a law known as "The Prenatal Diagnostic Techniques (Regulation & Prevention of Misuse) Act 1994". The provisions of this act shall be followed by all researchers in this area (and such other acts which may be passed in future).
  8. These guidelines are not only for research on human subjects, but are part and parcel of the clinical practice of Medical Genetics as well.

DEFINITIONS


Genetic material/Genome Genetic material refers to the material made of DNA in each cell of any organism. The DNA is divided into genes. Each gene contains the information required to produce one polypeptide/protein needed by the organism.

Chromosome
The thread-like DNA in a cell is divided into several separate lengths. Each length forms a structure called a chromosome. There are two copies of each chromosome in every cell. Human cells contain 23 pairs of chromosomes.

Gene
A gene is a length of DNA that contains the information needed to make one polypeptide. For example, the beta globin gene contains the information needed to make the beta globin polypeptide found in the hemoglobin of red blood cells. More than one gene may be involved in making one protein, and more than one polypeptide may be formed from one gene as a result of alternate splicing.

Genetic Engineering
It is the process of changing the genetic material of an animal or an organism or a plant. The main method of genetically modifying the organism is by transgenesis.

Heterozygote
Each cell of an organism contains two copies of each gene. In a heterozygote, the two genes of a pair are different from each other.

Homozygote
Each cell of an organism contains two copies of each gene. In a homozygote, both copies of the gene are identical to each other.

Mutation
A process by which the DNA of an organism changes or mutates. In humans this can lead to disease such as thalassemia in which the mutation results in decreased production of beta or alpha globin. The mutant gene is passed down from a parent to the offspring and so the condition is inherited. In viruses, and other infectious organisms, mutations can lead to emergence of organisms with new characteristics. It can make them more virulent, or resistant to antibiotics thus increasing their infectivity.

Patent
A patent is a monopoly right, granted for a limited period, given to an inventor in return for the publication to the world at large of the details of an invention.

Recombination
A cross-over between two members of a pair of chromosomes results in the formation of a recombined chromosome wherein a new set of gene arrangement is created.

Transgenesis
This refers to the introduction of a foreign gene into an animal or other organisms. The transferred gene is called a transgene.

Transplantation
Transplantation involves the removal of organs, tissue or cells from one organism and their implantation into another organism.

GENERAL PRINCIPLES

The 12 principles laid down under Statement on General Principles are common to all areas of biomedical research. The specific issues are mentioned under relevant topics.


Review Committee in Human Genetics
All institutions where research is carried out on human genetics should have an Ethical Review Committee with adequate expertise in the field. Scientific competence of the investigator and sound scientific methodology should be essential prerequisites for genetic research. It includes appropriate training, planning, pilot and field testing of the protocols, containment where necessary and quality control of laboratory techniques.

Informed Consent
For all biogenetic research involving human subjects the investigator must obtain the informed consent of the prospective subject or, in the case of an individual who is not capable of giving informed consent, the proxy consent of a properly authorized representative/legal guardian should be taken.

Research involving children
Before undertaking research involving children, the investigator must ensure that :


  • children will not be involved in research that might be carried out equally with adults;
  • the purpose of the research is to obtain knowledge relevant to the health needs of children;
  • a parent or legal guardian of each child has given proxy consent;
  • the consent of each child has been obtained to the extent of the child's capabilities;
  • the child's refusal to participate in research must always be respected unless according to the research protocol the child would receive therapy for which there is no medically acceptable alternative;
  • the risk presented by interventions not intended to benefit the individual child-subject is low and commensurate with the importance of the knowledge to be gained; and - interventions that are intended to provide therapeutic benefit are likely to be at least as advantageous to the individual child-subject as any available alternative


Essential information for prospective research subjects
Before requesting an individual's consent to participate in research, the investigator must provide the individual with the following information, in language that he or she is capable of understanding. The communication should not only be scientifically accurate but should be sensitive to their social and cultural context:



  • that each individual is invited to participate as a subject in research. The aims and methods of the research should be fully explained to the concerned individual.
  • the expected duration of the subject's participation;- the benefits that might reasonably be expected to result to the subject or to others as an outcome of the research;
  • any foreseeable risks or discomfort to the subject, associated with participation in the research;
  • any alternative procedures or courses of treatment that might be as advantageous to the subject as the procedure or treatment being tested;
  • the extent to which confidentiality of records in which the subject is identified will be maintained;
  • the extent of the investigator's responsibility, if any, to provide medical services to the subject for any unexpected injury/illness resulting from the research free of charge;
  • research subjects who suffer physical injury as a result of their participation are entitled to medical care as an institutional responsibility;
  • that the individual is free to refuse to participate and will be free to withdraw from the research at any time without penalty or loss of benefits to which he or she would otherwise be entitled. All possible means of coercion or direct or indirect rewards for participation should be scrupulously avoided.


Equitable distribution of burdens and benefits
Individuals or communities to be invited to be subjects of genetic research should be selected in such a way that the burdens and benefits of the research will be equitably distributed. Special justification is required for inviting vulnerable individuals (prisoners, mentally retarded subjects, medical students, nurses, subordinates, employees etc.) and if they are selected, the means of protecting their rights and wishes must be strictly applied. Persons who are economically or socially disadvantaged should not be used as research subjects to benefit those who are financially better off.

Pregnant or Nursing women as research subject
Pregnant or nursing women should in no circumstances be the subject of genetic research unless the research carries no more than minimal risk to the fetus or nursing infant and the object of the research is to obtain new knowledge about the fetus, pregnancy and lactation. As a general rule, pregnant or nursing women should not be subjects of any Clinical Trials except such trials as are designed to protect or advance the health of pregnant or nursing women or fetuses or nursing infants, and for which women who are not pregnant or nursing would not be suitable subjects.

Confidentiality of data
The investigator must establish secure safeguards for the confidentiality of the research data. Subjects should be told of the limits to the investigator's ability to safeguard confidentiality and of the anticipated consequences of breaches of confidentiality. When commercial companies are involved in research, it is necessary to protect researchers and subjects from possible coercion/inducement to participate in the study.

Academic institutions conducting research in alliance with industries/commercial companies require a strong review to probe possible conflicts of interest between scientific responsibilites of researchers and business interests (e.g. ownership or part-ownership of a company developing a new product). In cases where the review board determines that a conflict of interest may damage the scientific integrity of a project or cause harm to research participants, the board should advise accordingly. Institutions need self-regulatory processes to monitor, prevent and resolve such conflicts of interest.

Prospective participants in research should also be informed of the sponsorship of research, so that they can be aware of the potential for conflicts of interest and commercial aspects of the research.

Undue inducement through compensation for individual participants, families and populations should be prohibited. This prohibition, however, does not include agreements with individuals, families, groups, communities or populations that foresee technology transfer, local training, joint ventures, provision of health care or of information infrastructures, reimbursement costs of travel and loss of wages and the possible use of a percentage of any royalties for humanitarian purposes.

SPECIFIC PRINCIPLES

I. HUMAN GENETIC DISEASES/DISORDERS


Pedigree Studies
These involve obtaining history of other members of the family of the proband under investigations. It may reveal information about the likelihood that individual members of the family either are carriers of genetic defects or may be affected by the disease.

Special privacy and confidentiality concerns arise in genetic family studies because of the special relationship between the participants. It should be kept in mind that within families each person is an individual who deserves to keep the information about himself or herself confidential. Family members are not entitled to know each other's diagnosis. Before revealing medical or personal information about individuals to other family members, investigator must obtain the consent of the individual. In our country revealing the information that the wife has balanced chromosomal translocation (leading to recurrent abortions or a genetic syndrome in her child) or that she is a carrier of a single gene i.e. 'X' linked or recessive disease, may lead to the husband asking for a divorce inspite of the fact that in some of the cases, the husband himself may be a carrier of a recessive disorder. While general principles of Counselling require the presence of both the spouses, necessary care must be taken not to end up in breaking the families.

Subject recruitment
The familial nature of the research cohorts involved in pedigree studies can pose a challenge for ensuring that recruitment procedures are free of elements that unduly influence the decision to participate. The very nature of the research exerts pressure on family members to take part, because the more complete the pedigree, the more reliable the resulting information will be. Problems which could arise when -


  • Revealing who else in the family agreed to participate may lead to breach of confidentiality.
  • A proband is used for revealing his personal interest he/she may put undue pressure on relatives to enroll in the study.
  • Direct recruitment (by telephone calls) may however be seen as an invasion of privacy by family members.
  • Contact through personal physicians may imply that their health care will be compromised if they do not agree to participate.

Defining risks and benefits
Potential risks and benefits should be discussed thoroughly with prospective subjects. In genetic research, the primary risks outside of gene therapy are psychosocial rather than physical.

Adequate counselling should be given to subjects on the meaning of the genetic information they receive. Genetic counselling should be done by persons qualified and experienced in communicating the meaning of genetic information.

II. GENETIC SCREENING

Definition : A search in a population to identify individuals who may have, or be susceptible to, a serious genetic disease or who, though not at risk themselves, are gene carriers and thus may be at risk of having children with a particular genetic disease.

Depending on the nature of the genetic defect that is identified and its pattern of inheritance, siblings and other blood relations as well as existing and future offsprings may be affected. Thus the status of genetic information raises, ethical questions that differ significantly, from the normal rules and standards applied to the handling of personal medical records. Adequately informed consent is therefore essential. Those being screened are entitled to receive sufficient information in a way that -


  • they can understand what is proposed to be done
  • they must be made aware of any substantial risk
  • they must be given time to decide whether or not to agree to what is proposed and they must be free to withdraw from the investigation at any time.

The Disorder to be screened and its inheritance pattern should be explained as also the reliability of the screening test, the procedure for informing individuals of the results, what will be done with the samples, information about the implication of a positive screening test (abnormal) and a warning to pregnant women that genetic screening may reveal unexpected and awkward information, for example about paternity.

Confidentiality should be maintained in handling of the results with an emphasis on the responsibility of individuals with a positive (abnormal) result to inform partners and family members.It should be emphasised that consent for screening or a subsequent confirmatory test does not imply consent to any specific treatment or to the termination of a pregnancy.

General guidelines have to be followed for vulnerable individuals i.e minors, mentally ill, prisoners, students, subordinates, people who do not speak the language of the investigator etc.

Genetic counselling should be readily available for those being screened. Confidentiality of medical information is protected by law but this is not absolute. Information may be disclosed where it is in the public interest to do so.

Screening New Borns : Screening of new borns should be allowed to detect only those genetic diseases like phenylketonuria where the serious effects of the disease could be prevented by a special diet or treatment . The same applies to investigations to detect genetic, chromosomal, metabolic abnormalities, etc. if general principles mentioned earlier are followed. The other diseases can be screened as and when interventions/therapy is made available in future. Prenatal testing : It is aimed at detecting the presence of genetic or chromosomal abnormalities in fetuses. Examination of the genetic make up of the fetus is done through amniocentesis, chorionic villi sampling, placentocentesis, cordocentesis (blood sampling from the umbilical cord) and skin and other biopsies,and also examination of blood samples from the mother. Embryoscopy may be used to detect external malformations. Anonymous testing: Researchers may conduct anonymous testing or screening on the general population in order to establish the prevalence of genetic anomalies and deleterious genes.This is now possible by PCR(polymerase chain reaction) amplification which uses a single blood spot or a small sample of blood for multiple tests. Blood spots collected in screening newborns for treatable disorders could be used to collect epidemiologic information about genetic predispositions to disorders of late onset. In cases where the information derived from stored specimens might be useful to individuals, the code of anonymity may be broken. All the criteria mentioned in the general principles like informed consent, confidentiality etc. should be observed. Genetic Registers : Computer based genetic registers are subject to Data Protection Act but there is need for additional safeguards for all genetic registers, including storage of information in a safe place and manner, restriction of access to only those specifically responsible for the register, and the removal of identifying information when data are used for research purposes.

The practice of genetic screening in employment: It may be done only when justified and in the interest of the employees i.e. Sickle Cell Disease screening for those in aviation industry who are likely to be exposed to atypical atmospheric conditions. An employer may use genetic screening procedures with the consent of entrants (This issue is not decided in many countries). This screening may be only for a disorder which might be harmful to the employee or any disorder which may jeopardise other people in the relevant function or job. (Any possibility of direct or indirect threat to the job should be scrupulously avoided.)

Subject to prior consultation with workplace representatives, and with appropriate Health authorities, it is recommended that genetic screening of employees for increased occupational risks ought only to be contemplated where-



  1. there is strong evidence of a clear connection between the working environment and the development of the condition for which genetic screening is to be conducted;
  2. the condition in question is one which seriously endangers the health of the employee or is one in which an affected employee is likely to present a serious danger to third parties;
  3. the condition is one for which the dangers cannot be eliminated or significantly reduced by reasonable measures taken by the employer to modify or respond to the environmental risks.


Insurance companies should adhere to the current policy of not requiring any genetic tests as a prerequisite of obtaining insurance. This is forbidden by law in some countries .e.g. USA.

Public policy & genetic screening

There is a very great need for improving public awareness and understanding of human genetics. There should be a central coordination and monitoring mechanism for a genetic screening programme in the interest of the public, the majority of which have little knowledge of genetics.

III. THERAPEUTIC APPROACHES INCLUSIVE OF GENE THERAPY

Genetic disorders which require nutritional replacement therapy like phenylketonuria do not pose any ethical problem. Replacement with animal products should follow the rules as stipulated for other diseases.


Gene Therapy


The goal of human genetic research is to alleviate human suffering. Gene therapy is a proper and logical part of this effort. Gene therapy should be subject to all the ethical codes that apply to research involving patients.

i) Somatic gene therapy is the only method out of the four types of Genetic Engineering that may be allowed for the purpose of preventing or treating a serious disease when it is an ethical therapeutic option. It should be restricted to the alleviation of disease(life threatening or seriously disabling genetic disease) in individual patients and should not be permitted to change normal human traits.

Safety should be ensured especially because of the possibility of unpredicted consequences of gene insertion. It should provide for long term surveillance. Informed consent must be taken especially regarding uncertainities about outcome, as children could be candidates for therapy.

ii) Germ Line therapy should not be attempted at present because there is insufficient knowledge to evaluate the risk to future generation. Unpredictable outcome is a more valid reason than fear of unscrupulous people in power acquiring undue powers.

iii) Enhancement Genetic Engineering for altering human traits should not be attempted as we possess insufficient information at present to understand the effects of attempts to alter/enhance the genetic machinery of humans. It is not wise, safe or ethical for parents to give for example growth hormone to their normal offspring in order to produce very large football or basketball players. Similarly it would be unethical to use genetic engineering for improvement of intelligence, memory etc even if specific gene/genes are identified in future.

iv) Eugenic Genetic Engineering for personality, character,formation of body organs, fertility, intelligence and physical, mental and emotional characteristics are enormously complex. Dozens, perhaps hundreds, of unknown genes that interact in totally unknown ways, probably contribute to each such trait. Environmental influences also interact with these genetic backgrounds in poorly understood ways. The concept of remaking a human i.e. eugenic genetic engineering is not realistic and has grave risks of this being misused by unscrupulous people in power. This should not be allowed.

IV. ISSUES RELATED TO NATIONAL AND INTERNATIONAL COLLABORATIVE RESEARCH


It is important that all research with human subjects adequately protect the rights and welfare of the subjects. All human genetic research in India will be subject to guidelines of the funding agencies and rules and regulations laid down by the Govt. of India if it were conducted wholly within the country.International collaborative projects should not only follow the guidelines for collaboration but make sure that the investigations should follow the guidelines given by the financial agencies/national bodies especially with regard to ethical guidelines. This includes international standards, declaration of Helsinki or Nuremberg code. Written descriptions of the specific procedural implementation of such policies that have been adopted by the collaborating institutions in their own countries are required.

Investigators should be very clear as to which part of the project will be done in a foreign country and also what specific sample will be taken out of the country for the project. It should be strictly forbidden to utilise the sample for any other purpose than for the specific purpose mutually agreed to and sanctioned by the appropriate authority. To be specific no DNA from human subjects should be sent out of the country unless it follows the procedure and guidelines laid down by the Indian Council of Medical Research/Government of India. In the event of failure of agreement the guidelines of the country (India) shall prevail.

Commercialization
The human genome in its natural state is not subject to private, national or transnational ownership by claim of right, patent or otherwise. Intellectual property based upon the human genome may be patented or otherwise recognised in accordance with national laws and international treaties. Question of patenting DNA should be clearly stated. Who should benefit should also be specified. The percentage benefit to be given/received should be mentioned in writing through a carefully drawn Memorandum of Understanding.

V. HUMAN GENOME DIVERSITY


Deptt. of Biotechnology, Ministry of Science & Technology has brought out a document on genomic diversity which envisages the following -


  • To support a network of laboratories in India for studying genomic diversities of anthropologically well-defined populations following a uniform set of protocols for collecting information, and screening a uniform set of genomic markers by inviting and implementing project proposals under the framework of this programme.
  • To establish a national repository of biological samples (DNA, cell lines etc.) with appropriate safeguards, regulations and monitoring.
  • To establish and integrate regional and national statistical databases comprising genomic, epidemiological, cultural and linguistic data on Indian population.

The biological tools, materials and analysis of DNA samples will be carried out by Indian scientists in Indian laboratories. The biological samples collected under this programme, as well as the data generated, have a variety of ethical, legal and commercial implications.

Scientists involved in this will follow appropriate ethical protocols and respect the rights and sensitivities of the participating individuals and populations. The relevant issues pertain to: i) the mechanism for collection of samples, ii) who can have access to the samples and for what purposes, iii) who owns the DNA; and iv) to establish measures for quality control of the laboratories.

VI. RESEARCH RELATED TO DNA BANKING


Primary use:

DNA samples should not leave the country without following the guidelines evolved by the Govt. of India with clear undertaking that it should not be used for any other purpose other than the original intent for collection.

Secondary use:

In every case where a new study proposes to use samples collected for a previously conducted study, the ethical committee should consider, whether the consent given for the earlier study also applies to the new study, whether the objectives of the new study diverge significantly from the purpose of the original protocol, and whether fresh consent has been obtained when the new study depends on the familial identifiability of the samples.

Internationally the accepted norm is to obtain fresh consent for any secondary use. The consequences of DNA diagnosis for which no treatment is available or for conditions menifesting late in life e.g. breast cancer, Alzheimer's etc. should be seriously considered before embarking on DNA diagnosis.

VII. DNA DIAGNOSIS

The general principles of informed consent, confidentiality and other criteria used for any investigation in genetics should be followed.


Preimplantation DNA diagnosis- As there are various types of investigations in this area this should be reviewed by an ethical committee.

In children - Parents are advised not to get the diagnosis done especially in cases like Huntington's disease till the child reaches the age of proper "consent" to the test.

In adults, the vulnerable population should be kept in mind while following the general principles. Unless appropriate counselling services are available DNA diagnosis is fraught with grave psycho-social implications.

VIII. ASSISTED REPRODUCTIVE TECHNIQUES


Definition


Any fertilization involving human sperm and ova that occurs outside the human body. There is no objection ethically as at the moment for IVF or any other related procedure for conducting research or for clinical applications.

"Informed consent" should include information regarding use of "spare" embryos. It should be made clear whether embryos that are not used for transfer could or could not be used for research purposes or implanted in another woman's womb, or "preserved" for use at a later date or destroyed. Investigators should ensure that participants are informed and consent is taken in writing.

Investigators should clarify the ownership of the embryos whether they belong to the biological mother or the laboratory. Abortions should never be encouraged for research purposes.

A National Advisory Board for ethics in reproduction should be constituted which can evaluate research proposals in this area.

Fetuses as research subjects - Research involving human fetuses raises special concerns. The fetus has a unique and inextricable relationship to the mother. It cannot consent to be a research subject. The fetus may also be an indirect subject of research when women, who may be pregnant, participate in the research.

Respect for safeguarding of personal and parental reproductive choices - Reproductive decisions should be the province of those who will be directly responsible for the biological and social aspects of child bearing and child rearing. Usually this means the family. However, when a couple is unable to reach an agreement, the mother should have the final authority of decision.

Women have a special position as care givers for children with disabilities. Since the bulk of care falls upon the woman, she should make the final decision among reproductive options, without coercion from her partner, her doctor, or the law. Choice is more than the absence of legal prohibition or coercion. Choice should include the economic and social ability to act upon a decision, including disability. There should be a positive right to affordable genetic services, safe abortion and medically indicated care for children with disabilities.


Cloning -

(i) through Nuclear transplantation : This seems to be a possibility in the near future as sheep and monkeys have already been cloned. The ethical implications need not be expanded. Research on human cloning definitely should be forbidden by law.

(ii) through embryo splitting: Embryo splitting is ethically acceptable provided that the resulting embryos are not damaged or destroyed in the process. There are many issues involved here which require separate discussion.

a. It is ethically acceptable to use embryo splitting to produce embryos for simultaneous implantation in the same woman. (Not more than four embryos shall be produced from a single embryo) and to cryopreserve embryos resulting from embryo splitting for transfer and implantation in a subsequent IVF cycle, should an initial IVF cycle using split embryos prove unsuccessful.

b. It is unacceptable to split embryo and retain them in a cryopreserved state for the sole purpose of :


  • providing an adult with an identical twin to raise as his or her own child
  • having a large family of genetically identical children
  • retaining a "back-up" embryo as a potential replacement for a child who dies
  • retaining a "back-up" embryo as a potential organ or tissue donor for an identical twin already born
  • retaining a "back-up" embryo as a potential source of fetal tissue, organs or ovaries
  • donation to others
  • sale to others.

Whether it is ethically acceptable to split embryos for the specific purpose of allowing preimplanation diagnosis on one of the resulting embryos if that embryo would be damaged in the process is debatable.

Research involving human embryos: This should be permitted with appropriate safeguards. Studies of "normal" embryos will lead to understanding the process of fertilization, which cannot be entirely accomplished by animal research. Additionally, studies of "abnormal" embryos are a potential source of scientific information at the molecular level about the origins and development of genetic disorders, malformations and pediatric cancers. To understand the natural history of some genetic diseases, it will be necessary to obtain sperm and eggs from parents who are at higher risk to transmit these conditions to offspring, and to study the genetic mechanisms involved compared to those in "normal" embryos. Thus, restricting embryo research only to spare embryos donated after infertility treatment will not be sufficient.

The embryo does not have the same moral status as infant or child, although it deserves respect and moral consideration as a developing form of human life. This judgement is based on three characteristics of pre-implantation embryos; absence of developmental individuation, no possibility of sentience (feeling) and a high rate of natural mortality at this stage. Harm cannot be done to such an organism until the capacity for sentience has been established. From this perspective there is a clear difference between the moral status of living children and embryos. It is possible to damage an embryo in research. The damage would become "harmful" in the moral sense only if the embryo was transferred to a human uterus and a future sentient person was harmed by the damage once done to the embryo. This possibility can be avoided by regulations forbidding the transfer of any embryo that has been involved in research to a human uterus.

Respect for embryo can be shown by (1) accepting limits on what can be done in embryo research, (2) committing to an inter-disciplinary process of peer group review of planned research, and (3) carrying out an informed consent process for gamete and embryo donors. Further, respect for the embryo's limited moral status can be shown by careful regulation of the conditions of research, safeguards against commercial exploitation of embryo research, and limiting the time within which research can be done to 14 days. This last restriction is in keeping with the policy in several nations that permit research with embryos (Australia, Great Britain, American College of Obstetrics and Gynaecology 1986; Human Fertilization and Embryology Authority, 1993; Royal Commission on New Reproductive Technologies, 1993) until the developmental stage when the "primitive streak" appears. At this time, the development of nervous system begins and the embryo begins to become a distinct individual.

Adoption: Adopted children or children born from use of donor gametes, and their social parents, should have the right to know whatever medical or genetic information about the genetic parents that may be relevant to the child's health. Genetic testing of adopted children or children awaiting adoption should fall under the same guidelines as testing of biological children.

IX. HUMAN GENOME PROJECT (HGP)


The human genome project (HGP) is an international research effort, the goal of which is to analyse the structure of human DNA and to determine the locations of the estimated 1,00,000 genes. Another component of the programme is to analyse the DNA of a set of non-human model organisms to provide comparative information that is essential for understanding how the human genome functions. The project began formally in 1990.The investigators have been able to identify and isolate human genes particularly those associated with diseases. The project has the potential for profoundly altering our approach to medical care from one of treatment of advanced disease to prevention based on the identification of individuals at risk. HGP is arguably the single most important organised research project in the history of biomedicine. Ethical considerations

Implications of using this genetic knowledge pose a number of questions for -


  1. individual and families - whether to participate in testing, with whom to share the results, and how to act on them
  2. health professionals - when to offer testing, how to ensure its quality, how to interpret the results and to whom to disclose information
  3. employers, insurers, the courts and other social institutions - the relative value of genetic information to the decisions they must make about individuals
  4. for governments - about how to regulate the production, and use of genetic tests and the information they provide and how to provide access to testing and counselling services for society
  5. for society - how to improve public understanding of science and its social implications and increase participation of the public in science policy making.

X. RESEARCHER'S RELATIONS WITH THE MEDIA AND PUBLICATION PRACTICES

Researchers have a responsibility to make sure that the public is accurately informed about results without raising false hopes or expectations. Researchers should take care to avoid talking with journalists or reporters about preliminary findings. Sometimes the media report potentially promising research that subsequently cannot be validated. Sometimes the media report research on animals in such a way that the public thinks that the step to treatment for humans is an easy one. Retractions almost never appear in the popular press or on television. Therefore it is important to avoid premature reports. The best safeguard against inaccurate reporting is for the researcher to require, as a condition for talking with the media, that the reporter supply a full written rather than oral version of what will be reported, so that the researcher can make necessary corrections.

Investigators publication plans should not threaten the privacy or confidentiality of subjects (publication of pedigrees can easily result in the identification of studying participants). It is recommended that consent for the publication shall be obtained separately rather than as part of the consent to participation in research or treatment.

XI. GUIDELINES ON ETHICAL ISSUES FOR PROFESSIONALS AND PRACTITIONERS OF GENETICS IN THE FIELD OF HUMAN GENETICS


General ethical guidelines in medical genetics for health workers and public are outlined. Respect for person includes informed consent, right to referral, full disclosure, protection of confidentiality and respect for children and adolescents in the context of genetic testing.


  • Access to genetics services - Access to genetics services should not depend upon social class or ability to pay. Whatever services exist in a nation should be available equally to everyone. Genetic services should be provided first to those whose need for them is greatest. Hence, there is a great need to set up genetic centres for counselling as well as therapy where available.
  • Non-directive counselling - Genetic counselling should be non-directive i.e. the couple should be explained the various options available, while the final choice should be left to the couple. Illiterate subjects with no or poor understanding of scientific facts may be told what other persons in their situation may opt to do.
  • Voluntary approach - It is essential to ensure that the individual voluntarily approaches genetic services including genetic counselling, screening for susceptibility to common diseases or to occupationally-related diseases, presymptomatic testing, testing children, and prenatal diagnosis. Persons who choose or refuse genetic services should not be the object of discrimination or stigmatization. Persons who choose or refuse genetic testing or services should not be penalized in terms of health care, employment, or insurance.
  • The only exception to the rule of voluntary screening should be newborns, if, and only if, early treatment is available that would benefit the newborn. Therefore, the government may mandate screening for newborns who would be harmed by the absence of prompt treatment. When this is done the government would have the ethical obligation to provide prompt, affordable treatment for the disorders for which they screen. Otherwise the screening would be in vain.
  • Disclosure of information - There should be full disclosure of clinically relevant information to patients. Professionals should disclose all test results relevant to an individual's own health or the health of a fetus, including results indicative of any genetic condition, even if the professional regards the condition as not serious. Those who will bear and rear the child should decide, after receiving full and unbiased information, about the effects of the conditions on their family and their socio-cultural situation. Test results should be disclosed even if ambiguous or conflicting. New or controversial interpretations of test results should also be disclosed. Test results without direct relevance to health (e.g. nonpaternity, fetal sex in the absence of X-linked disorders) may be withheld if this appears necessary to protect a vulnerable party. Disclosure includes the duty to recontact individuals or families if new developments arise that are relevant to health.
  • Duties to family members - In genetics, the true patient is a family with a shared genetic heritage. Family members have a moral obligation to share genetic information with each other. If children are intended, individuals should share information with their partners. Individuals have a duty to inform other family members who may be at high risk. If an individual will not do so, the medical geneticist may issue a general warning to family members, but without revealing information about the affected individual. Preserving patient confidentiality is a well-known duty in medicine. This duty is mitigated if it conflicts with another well-known duty, preventing harm to other parties.
  • Protection of privacy from institutional third parties - Medical geneticists should recognize the potential for harm when institutions are allowed access to genetic information about individuals, even with the individual's consent. Therefore, such institutions should not have access to such data and should not be permitted to require genetic tests.
  • Prenatal diagnosis - This should be performed only for reasons relevant to the health of the fetus or the mother. Prenatal diagnosis should not be performed solely to select the sex of the child (in the absence of an X-linked disorder). Sex selection, whether for male or female, denigrates the fundamental personhood of those already born, and has the power to harm societies by unbalancing sex ratios. The potential harm to large groups of people outweighs any immediate benefits to individuals or families. The Government of India has already passed legislation banning diagnosis of sex for non-medical reasons.
  • Prenatal diagnosis can be used to prepare parents for the birth of a child with a disability. Therefore, prenatal diagnosis should be available to such parents who request it but oppose abortion, provided that they understand and are willing to accept the risks to the fetus.
  • In some cases, prenatal diagnosis may be performed to protect the health of the mother. These include clinically confirmed cases of morbid anxiety or situations where prenatal paternity testing would benefit the mother's mental health (e.g. if rape occurred while a couple was trying to conceive).

Professionals should recognize the human and economic costs involved in prenatal diagnosis and should limit its use to situations where there is a clear benefit.

RESOURCE MATERIAL



  • The human genome project & the future of Medicine Mark S Guyer & Francis S Collins Human Genome Project, Guyer & Collins, Vol 147, Nov 1993, P 1143-1151.
  • Nuffield Council on Bioethics U.K.Genetic screening & ethical issues
  • Nuffield Council on Bioethics, UK Human tissues Ethical & legal issues
  • Safeguards for Gene Therapy Notice Board, The Lancet, Vol.339, Jan 25, 1992 Page 238
  • The Prenatal Diagnostic Techniques Act,India (1994).
  • DBT Guidelines for Gene Therapy,India (1996)
  • Guidelines for Exchange of Human Biological Material for Biomedical Research Purposes,Ministry of Health & family Welfare,India (1997).


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