Medical Genetics - V. M. Zaporozhan 2005

Prevention of Hereditary Diseases
Genetic Passport

Today, There is a realistic opportunity to obtain a genetic passport for every individual (Appendix 3). A genetic passport may include the following data:

— karyotype analysis;

— screening of The Human Genome for mutant Gene alleles responsible for tumor development;

— screening for genes predisposing to Multifactorial Diseases;

— presymptomatic Diagnosis of late-onset Genetic Disorders;

— screening for heterozygous carriers of genes associated with the most common recessive diseases;

— genomic fingerprinting (which is significant not only in forensic medicine for personal identification, paternity testing, and establishing Blood relationships, but also helps resolve the issue of genetic compatibility of Organs and Tissues in transplantation).

Naturally, obtaining such a passport currently entails significant financial costs. However, rapidly advancing automated technologies for detecting Mutations and DNA polymorphisms using DNA Microarrays offer hope for a substantial cost reduction in the near future.

With qualified MEDICAL Genetic Counseling, having such a genetic passport can play a vital positive role at all stages of a person's life. Timely dietary adjustments, proper career guidance, and targeted prenatal diagnosis would help prevent numerous diseases, avoid the birth of children with hereditary pathologies, and avert many medical and personal crises.

However, the availability of a genetic passport not only opens new horizons for healthcare but also raises a multitude of serious social and ethical concerns.

Which healthcare institutions and in what manner will be able to ensure the effective use of the genetic passport? Who will actually have access to the individual database? How will strict confidentiality be maintained? Could the test results be used to discriminate against carriers of pathological genes (in hiring, life and health insurance, and other situations)?

When should testing be performed? Many individuals prefer not to know if they carry genes for severe, incurable late-onset diseases (such as Huntington's chorea or Alzheimer's disease). WHO experts recommend refraining from any testing of children until they reach adulthood, i.e., until they are capable of making an informed decision regarding the Procedure. Presymptomatic testing should be conducted only at the patient's request, strictly in cases of potential real benefit to the patient or their relatives, and provided that the patient is given the most objective information possible regarding the test results.

To what extent should test results be taken into account when entering into marriage? Should a carrier of unfavorable alleles disclose them to family members and their family physician? These and many other questions related to genetic passports and genetic testing in general are increasingly becoming subjects of widespread debate.

Nevertheless, given that our knowledge of the human genome is continuously deepening and gradually integrating into all spheres of life—medicine above all—there is every reason to believe that these issues will eventually be resolved. The training of highly qualified medical geneticists who are well-versed in the human genome, the growing genetic awareness of the public, and The Development of well-conceived legal rules and norms for genetic testing are essential prerequisites for achieving this goal.