With advanced level of human genetics, people seek advice for many reasons. In cases where a person wants to know the chances of having children with inherited defect if he marries a girl who has a sibling with that defect or for a couple to have a second child if the first is mentally ill ,etc., genetic counselor is contacted. A counselor provides all the necessary genetic and medical information, social, economic and psychological factor associated with the case and leaves the choice to the persons who seek advice. A genetic counselor happens to be either a medical doctor or a well trained professional having specialized knowledge of human genetics. Accurate diagnosis of the disease should be done and karyotyping is sometimes required. When it is established that hereditary factors are involved in that particular trait then the hereditary background and the type of inheritance involved is determined through pedigree analysis. The counselor then gives advice on the basis of the findings in terms of probability and severity of the defect along with associated problems. Low risk and less severity is a different situation to high risk and high severity. The risk may be low but the probability may be high whereas the risk maybe high but the probability may be low. However while disclosing the information to the individual, care should be taken so that the person may not become psychologically upset.
Medicine and Healthcare
Genetic technology is now an important part of medicine, and its impact will continue to grow as information from genomics is analyzed and applied to the diagnosis and treatment of human diseases (Cummings, 2010). Genetics has a very important role in medical aspects thereby promoting healthcare; hence an independent discipline has been emerged as medical genetics. With the concept of one gene one enzyme, the importance of gene in development of Mendelian disorders or classical single gene disorders cannot be ignored, as diseases can result from altered proteins or too little or too much of a protein, or proteins made at the wrong place or time (Lewis, 2009). Moreover, various complex disorders are now considered as the consequences of the interaction of gene and environment, even the inherited ones are sensitive. Some of the application of genetics in medicine and healthcare could be analyzed as such:
a) Genetic screening and counseling: Screening of various genetic disorders – both single gene and complex disorders is very much essential for the promotion of common healthcare. There are a number of inherited disorders which are lethal or sub-lethal. Screening of such lethal or sub-lethal disorders is one of the important applications of human geneticists. It is expected that millions of people worldwide are affected to such genetic disorders with over 10000 monogenic inherited disorders and every newborn has a 3% chance of having a genetic disorder, underscoring the need for tests that accurately diagnose heritable diseases at all stages of life (Lewis, 2009). These monogenic disorders may be autosomal or sex linked inheritance in either dominant or recessive patterns. Dominant inheritance will result into the expression of phenotype or disorders in question even in presence of only one copies of mutant allele.
While for recessive traits, two copies of mutant alleles are needed to express the phenotypic trait. The concerns of human geneticists in this regard lies in the identification of early prognosis of such lethal or sub genetic traits especially among the newborns, and hence remedial measures can be planned through counseling.
Reasons to seek genetic counseling:
- Family history of abnormal chromosomes
- Elevated risk of single gene disorder
- Family history of multifactorial disorder
- Family history of familial complex disorders
Genetic counseling sessions:
- Family history
- Pedigree construction
- Information provided on specific disorders, modes of inheritance, tests to identify at-risk family members
- Testing arranged, discussion of results
- Links to support groups, appropriate services
- Follow-up contact
Genetic counseling is the process by which the patients or relatives at risk of an inherited disorder are advised of the consequences and nature of the disorder, the probability of developing or transmitting it, and the options open to them in management and family planning. This complex process can be separated into diagnostic (the actual estimation of risk) and supportive aspects (Sequeiros et al., 2012).
The person who is giving advice is the counselor and the person who is seeking is counselee. Counselors need special attention in case of monogenic recessive disorders such as cystic fibrosis, phenylketonuria etc. as the normal couple has the probability of giving birth to affected children in the condition that both are carriers of the disorders. Early prognosis of such disorders is very much essential for the babies. Besides the monogenic inherited disorders, the counselors also deals with the complex disorders and the probable interaction of environment and gene based on the incidence of family history of the disorder. Though the counselors talk about the causes and consequences of genetic disorders, it is the counselee who has to take the final decision in this matter. A counselor can’t insist the counselee to opt or decide in favour of him.