Genetic counseling and eugenics | Anthropology Optional for UPSC PDF Download

Genetic counseling

• Genetic Counseling, as defined by Harper (1984), is “the process by which patients or relatives at risk of a disorder (that may be hereditary) are advised of the consequences of the disorder, the probability of developing and or transmitting it, and the ways in which this may be prevented or ameliorated”. However, the American Society of Human genetics (1975) formulated the definition as “Genetic counseling is a communication process which deals with the human problems associated with the risk of occurrence of a genetic disorder in a family”. 
• This process involves an attempt by one or more appropriately trained persons to help the individual or family to: 
  (i) comprehend the medical facts including the diagnosis,  probable course of the disorder, and the available management;
  (ii) appreciate the way hereditary contributes to the disorder and the  risk of recurrence in specified relatives;
  (iii) understand the alternatives for dealing with the risk of recurrence;
  (iv) choose a course of action which seems to them appropriate in their view of their risk, their family goals, and their ethical and religious standards and act in accordance with that decision; and
  (v) to make the best possible adjustment to the disorder in an affected family member and/or to the risk of recurrence of that disorder (Fraser, 1974).

Now let us see how Genetic Counseling is done:

• Firstly, it is necessary to identify people suffering from a genetic disease; and this is relatively easy for a trained clinician. But, it is difficult to identify a carrier for genetic disease and in most cases, it is not possible. However, information on the likelihood of an individual being a carrier for a genetic disease can be obtained by the analysis of family pedigree. Thereafter, the prospective parents (either suffering from or suspected to be heterozygous for some genetic disease) are advised about the risk of their would-be children suffering from the same disease. By creating a suitable social environment, such parent may be encouraged to voluntarily abstain from producing children.
• Genetic screening: Genetic counseling is essentially a communications process that informs prospective parents about the nature of genetic disorders, about the risk of their having a genetically defective child, and about the options available to them in dealing with that risk.  Or else they can opt to cope with the care of an existing genetically handicapped child. Genetic screening, in contrast, is a routine diagnostic procedure devised to detect those who are carriers of, or who are themselves affected by a hereditary disease. Genetic screening applies to populations rather than to individuals.
• The most-widespread application of genetic screening in the United States is for phenylketonuria (PKU).  All hospitals in the United States screen newborn babies for PKU by a blood test called Guthrie test.
• After genetic screening, if both the parents are heterozygous for a genetic disease and the genotypes of both the prospective parents become known,  then it is easier to work out the probability of their  child (if they decide to have one) inheriting the disease.  This can be done through amniocentesis about two months after conception; i.e., in amniocentesis; the cultured fetal cells are used for determining their karyotype, levels of the critical enzymes and the restriction patterns of DNA. Such an antenatal diagnosis is now available for several genetic diseases and for a variety of chromosomal defects.  Such a diagnosis can help the parents to opt for premature termination of abnormal fetus, if they so decide.
• Genetic counseling and antenatal diagnosis provides definite relief to the possible parents ‘at risk’ and thereby reduce the frequency of genetically defective individuals in the population.  However, it is unlikely that these measures would eliminate the deleterious alleles from a population. This is so because most genetic defects are recessive and heterozygotes for such alleles. Thus, even after a total ban on reproduction by the homozygotes for such recessive alleles, they would remain in the population through the heterozygotes, therefore, even such an extreme selection would lead to only a slow decline in their frequency.  Further, it is not likely that all the couples in any society will willingly submit themselves, at least in the foreseeable future, to these procedures. But genetic counseling has become a routine aspect of medical practice in most developed countries.
• It has been advocated that defective genes may be corrected through sophisticated genetic techniques either during the early stages of embryo development (embryo therapy) or in specific tissues of the adult patient (patient therapy); such an approach is referred to as genetic surgery.  
  Embryo therapy involves:
  (i) In vitro fertilization of egg
  (ii) Production of several copies of the normal allele of the defective gene
  (iii) Introduction of this DNA into the zygote or in the cells of the developing embryo and
  (iv) Integration of DNA, preferably in place of the defective allele, so that it may function normally.
• The aim of patient therapy is to introduce the normal gene into the critical tissue of the patient that is affected by a genetic disease, i.e., the tissue where the concerned gene is required to express itself the most, e.g., pancreas in the case of diabetes. The steps involved in patient therapy are similar to those in embryo therapy.  But in this case, cells from the concerned tissues have to be treated in vitro to correct their genetic defects and then reintroduced into the tissue where they may function normally. Techniques for isolation, identification and multiplication of many human genes are now available, and for many others they are likely to be developed soon. The techniques for gene transfer in eukaryotes are being refined and it may not be a great problem in the near future.
• A suggestion has also been made to use highly specific chemical mutagens that will correct the defect in the concerned gene. Such a directed mutagenesis, however, is a dream that may be more difficult to fulfill for the patient and embryo therapies through DNA mediated genetic modifications. Genetic screening and counseling may also lead to certain problems. The cases of mistaken paternity, the problem of confidentiality, delayed counseling are important among them.

Eugenics

• The term Eugenics was introduced by Francis Galton in 1883. It refers to the improvement of a population by selection of only its ‘best’ specimens for breeding.
• This has been practiced both by plant and animal breeders since ancient times.
• The idea of eugenics was to improve society by screening out and sterilizing people diagnosed as genetically unfit. Those with desirable genes would be given incentives to reproduce. Regardless of the reasons in support of sterilization, restricting an individual’s ability to reproduce is viewed as a violation of their constitutional rights. The science of eugenics can also be defined as a science of the well born, improving the inborn qualities of race and obtaining the better heritage of judicious breeding.

Eugenics Types

1. Positive Eugenics: By encouraging desirable individuals to bear more children and also to produce genetically enhanced children i.e., give them genetic characteristics (genotypes) they ordinarily would not be born with (www.bioethicsanddisability.org).
The positive eugenics can be increased by adopting the following measures:

• Encouraging early marriages: It is a general observation that highly placed persons of the society and those who have high ambitions of the future life devote best part of their youth to achieve ambitious goals.  Hence, they get married at a late age.  Both, biological and psychological investigations have revealed that the aged persons often lack expressive warmth for the sexual behaviour and their germplasm also lose its strength.  Hence, the young persons having the best hereditary traits should be encouraged for early marriages.  For this, a few laws should be formulated to avoid the delayed marriages.
• To fund the fit:  Most of the well gifted persons in a society would like to lead a well planned and relaxed life. In order to lead a comfortable life and to avoid unnecessary difficulties in nurturing the children, they wish to have small number of children.  Thus, the selected young men and women who have best eugenic value should be encouraged to have more children. H.J.Muller (1890–1967) has suggested that the persons who have best eugenic value should increase their family size.  The persons who have best eugenic value besides increasing their family size can otherwise act as father to many more children, and this is possible through artificial insemination. The sperms and eggs of stupendous people should be stored for potential use.
• Fitness and Education: In a society, the people should be educated about the basic ideology of wellbeing, ecology, human genetics, eugenics and sex. Hence, the children should be properly instructed about basic laws of health and they should be confident to develop a healthy, physically and mentally sound body.  The children ignorant about the details of sex may do further harm to the society than others. Therefore, there is a need to have sex education to avoid unwanted behaviour which is not desirable for our country. 
• Wastage of germplasm: By following measures, one can avoid the wastage of best type of germplasm:
  (i) We should select the marriage partners wisely,
  (ii) The nuns and priests, because of religious commitment do not marry.

  This should be avoided.  By allowing these persons to marry, the wastage of the best part of germplasm can be prevented. 

• Genetic counselling: Human being is benefited a lot through genetic counselling. The nature of mutant condition must be informed to the concerned persons. This is the duty of the genetic counselor to enlighten the affected persons. After knowing the problem, the probability of producing affected offspring can be calculated provided it is inherited in a Mendelian fashion. The ultimate judgment of taking a risk is exclusively the accountability of the person concerned.

• Ecological surroundings and their improvement: To improve eugenically better persons, heredity and environment have played the most important role.  Therefore, every individual in society should get better food, good existing circumstances, proper education and health assistance etc., so that his or her genetic behaviour may have the best improvement. This will help in producing fertile offspring.

• Encouraging of genetic research: The existing knowledge on genetic diseases is not enough as we still have minute information on different human diseases. Hence, further research in the field of cytogenetics should be increased so that we can learn more and more about the man. Therefore, genetic research must be encouraged.

2. Negative Eugenics: Faulty germplasm from the people can be eliminated with the help of following measures:

• Sexual disconnection: Colour blindness, night blindness, hemophilia, etc. are some of the sex-linked diseases possessed by the defective persons and these may be regulated by dominant or recessive genes. The defective traits in the population can be checked by sexual disconnection and keeping them away and separated from the public. 
• Sterilization of the defective: Persons who have defective traits may be advised to go for sterilization. Through sterilization, without disturbing any of his usual functions, we can withdraw a person from his power of reproduction.
• Immigration and its control: The unwanted or faulty genes of different races and nationalities may intermingle with the normal germplasm of the people during immigration.  The persons with unwanted hereditary traits must not be permitted to migrate from one place to another.  Some laws should be formulated to control the immigration of those persons who have defective genetic traits.
• Marriage regulation: The affluent or well placed persons (who, still, may have numerous faulty genetic characters), are more favored for marriages than those who have eugenically sound hereditary traits but have no money. Because of not having money the eugenically sound persons agree for marriage with the genetically defective people.  These people fail to reach the uppermost status in the society due to lack of opportunities.