Genetic Counselling – Need of the hour !

Don't you think the time has come for people to now match their Karyotype Analysis along with their kundlis prior tying knots ?

Why ? Because of Genetic Disorders.

One of the recent trends in Healthcare and Human Welfare is ‘Genetic Counselling’, whose main aim is to identify individuals or families who may run a high risk for genetic disorders. Such genetic disorders may arise because of the exposure of individuals to certain special circumstances (eg : Radiation Effect) or due to related inheritance. The Committee on Genetic Counselling 1975 defines it as “A communication process which deals with the human problems associated with the occurrence or the risk of occurrence of a genetic disorder in a family”.

By this process a trained person tries to help an individual or a family :-

1.  To understand the various aspects of genetic disorders.

2. The contribution of heredity to the disorder.

3. The probability of its future occurrence in the family.

4. Possible steps to be taken to avoid it's recurrence in the family.

Allow me to introduce you to Components of Genetic Counselling :-

1. Diagnosis of the Genetic Disorder : This is done via medical specialists after performing certain available special tests.

2. Pedigree Analysis : This is nothing but a flowchart / mind-mapping to trace the roots (Who's the first carrier ); type (Inheritable or non-inheritable); of genetic disorder in the family. These charts also contain vital inputs from the family members along with results of laboratory tests.

Types of Genetic Counsellings :-

On the basis of conclusion derived from above tests, the counsellor would advise the individual or the family on the risks involved in their children inheriting the genetic disorder via following ways :-

1. Informative Counselling : In this, the family is told of the probability that their child won't be affected and other courses of action if any.

2. Supportive Counselling : In this, the affected individuals are provided professional help that may be needed to understand its intensity by a specialist counsellor.

Diagnosis Techniques :-

For the diagnosis of any possible genetic disorder in unborn babies (foetus), the extensively used method is Prenatal Diagnosis, which includes :-

1. Amniocentesis : Samples from the amniotic fluid are collected from the mother for testing. The collection of the sample is done between the 14th and 20th week. As the obtained fluid contains the foetal cells which are cultured in the laboratory and subjected to the Karyotype Analysis.

2. Chorionic Villus Biopsy : It is a relatively less common technique, in which a sample of chorionic villi surrounding the foetus is removed and the subsequent karyotype is obtained.

3. Karyotype Analysis : It is a test that evaluates the number & structure of a person's chromosomes in order to detect abnormalities at chromosomal levels.

Why so much hustle & tussle in these techniques ?

All these procedures are done so as to get a better idea of what's actually happening in that particular person or family at genetic level, but can be a menace for the subjects as well !

Margin of error :-

Just like any other technique or procedure, these diagnostic techniques are no exception to errors and the consequences which follow.

• Possibilities for an error due to differences can't be ruled out completely between unborn baby (foetal cells) and mother (placental cells).

• In certain cases, normal embryos have been aborted based on the abnormal karyotype of the chorion.

• Contrarily, a normal chorionic karyotype may be associated with an abnormal foetal karyotype which can yeild confusing results.

Therefore, in general, Prenatal Diagnosis is done exclusively in high risk pregnancies.

Genetic Screening :-

It is defined as a “systematic search in a population for persons of certain genotypes”. It is indeed a useful concept in itself, which can prevent many inherited diseases, for which, vulnerable parents shall be diagnosed and treated before they plan to expand their family. Recessive genotypes (Type of genes which are usually less in number in a population) are the ones that need to be screened out rigorously since they lie usually hidden and unsuspected.

Genetic Screening is usually done at three levels :-

1. Identification of potential parents :

Genetic diseases caused by the recessive genotypes arise due to marriage between heterozygous couples (Couples with different gene structure for the same trait).

Solutions for heterozygous couples include :

• They shouldn't marry at all.

• If they marry, they shouldn't have children.

• If they marry and have planned to conceive, they should get the pregnancy monitored to detect possible disease(s).

2. Identification by prenatal screening :

There are several methods by which disorders could be detected in embryos and foetuses. Eg : Malformations can be detected by Ultrasound Imaging and ‘Spina Bifida’ (a high risk non-closing of spinal cord) can be detected by high levels of α-foetoprotein (AFP).

3. Identification of the affected neonates :

Once the newborns have identified the genetic disorder, then every attempt must be made to prevent the disorder assuming serious dimensions. Any therapy should be done prior irreversible physiological damage is done to the individual. Eg : In the USA and Europe, it's mandatory to screen neonates for hyperthyroidism and phenylketonuria, the two diseases that could be treated effectively if detected in an early stage.

Current Progress :-

The success rate as followed up for 5 years is almost 50% in genetic counselling in India . The limitation being long follow up. Genetic counselling in tribal areas has to be continuous to achieve success and therefore the need for setting up of permanent centres in the tribal areas in India is still a long battle to be fought.

Scope for improvement :-

Due to below par standards of healthcare services and research and development projects, North-eastern States, Union territories of Ladakh and Jammu & Kashmir, Odisha, Chhattisgarh, Jharkhand etc are lagging behind at a concerning rate. The root cause apart from political intent is the capital available – merely 1.46 crore taxpayers which accounts for 1.068% of total indian population.

People (less taxpayers)  and people's representatives (Tax paying slab exempting those having income less than ₹ 5 lacs) both need to understand that overall development is a subsequent result of individual upliftments, which includes Genetic Counselling as well.

Honourable Mention – Phenylketonuria :-

Phenylketonuria (PKU) is an autosomal (not related to sex chromosomes) recessive (genes only in same DNA sequence from mother and father can express to bring a trait into existence) inherited disorder that causes metabolic problems in the newborn.

• In this, Phenylalanine hydroxylase enzyme isn't synthesized, which is meant to catalyse the conversion of amino acids Phenylalanine into Tyrosine.

• As a result, Phenylalanine get converted into Phenylpyruvic acid which gets accumulated in tissues.

• Due to its toxic accumulation in brain, neural tissues get damaged and the person undergoes mental retardation.

• One of the peculiar uniqueness of this disorder is excretion of Black urine, that's why Urine Analysis becomes important for its detection.

• This disorder can be treated if detected in early stage. But detection is only possible if the respective parents are aware.

Conclusion :

Parents are responsible for the existence of their children, hence, what's the point in bringing such lives into this world. Those children would be suffering on not only at physiological front, but also at social front as well. If we have a chance to prevent a person from being outcasted because of his / her fate, then we must take responsibility for the same.

Comment down below which genetic disorder you'd like us to cover so as to aware people about it. 👇🏻

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