Genetic counselling is a special process that seeks to assist affected individuals and other individuals at the risk of getting an inherited condition to understand the nature of the genetic disorder, its transmission and the options open to them in management and family planning. Despite the advancements of modern science, the medical field has failed to keep check congenital malformation under control. Ayurveda emphasis on various measures to minimize the risk of genetic abnormalities. The measures start well before conception, thus helping in achieving healthy progeny. Both men and women equally transmit the set of the chromosome to form a healthy progeny, thus the health of men and women is very important during the conceptional period to protect the health of progeny from inborn defects such as anatomical, physiological, psychological and sometimes latent. Ayurveda not only emphasizes on preventive and promotional health but also has strong pugmark in the field of healthy progeny. Sushrut explains inherited disorders like ‘Aadibal Pravrutta’ (hereditary disorders) and ’Janmabal Pravuratta’ (genetic disorders) way back centuries indicating the importance of genetic counselling for a healthy progeny. Charak dealt with inherited disorders with the help of Vikaras like ‘Varta, Putipraja, and Truna putrika in the form of Beeja, Beeja Bhaga, Bheeja Bhaga Avayaya.
Beeja: It may be compared with Genotype, It is genetic makeup of an organism with reference to a specific characteristic of a trait and also contribute to the phenotype of an individual such as the type of hair, colour of eyes etc from the different genetic pool.
Beejabhaga: It may be compared to a chromatin (chromosome) where the complements of DNA passed on from generation to generation, one from each parent. It is responsible for expression of the different characteristics of an individual and origin of different organ and tissue of the body.
Beeja Bhaga Avayaya: It may be compared to a gene which is responsible for expression of a particular trait in an individual. Whichever avayaya of beeja bhaga is vitiated by dosha, the respective avayaya is present with disease. The same concept holds for respective strotas. Ayurveda also explains Shad garbhakara bhava (procreative factors) such as matruja, pittruja, atamaja, saatmaja, rasaja, satvaja bhava plays an important role in achieving healthy offspring. Each procreative factors is assigned with certain organogenesis/ functional/ psychological phenomenon. The defect in any factor will lead to anatomical/ functional/ psychological or sometimes latent disorder. Couple seeks genetic counselling during preconception and conceptional period to minimize the risk of inherited disorders and also may aid at different levels of formation of Prakriti. Keeping the view of both Ayurvedic and modern perspective, instruction will be discussed in following 3 points:
1. Before pregnancy
2. During pregnancy
3. After pregnancy
Genetic testing is the core part of genetic counselling. So, it is advised to every person irrespective of the genetic risk to that concerned individual.
- Atulya gotra: Similar gotra should be avoided, otherwise, it leads to congenital disorders. The practice of endogamy and consanguinity among the tribals and some religion is likely to be one of the influencing factors for high prevalence of genetic disorder like sickle cell anaemia, thalassemia, G6PD deficiency etc.
- Early age conception: Charak mention’s to marry after the age of sixteen since the shareer dhatu are in apakva state. If she conceives before it, she will have intrauterine death, or child will be born with deformed part of organs.
- Advanced age conception: Conception after 35 years is associated with abnormal chromosomal number disorders like 21X (Down syndrome), 18X (Edward syndrome), 46XXY (Klinefelter syndrome). So advise should be to complete the family before the age of 35 years.
- Parental testing related to DNA maker: This genetic test uses special DNA makers to identify similar inheritance patterns between related individual, based on the fact that we all inherit an equal number of DNA from our parents. They test individuals to find the match of DNA sequences at some highly differential makers to draw a conclusion of related disorder if any.
- Satmyata of bhavas (habituation of things): Lifestyle modification should be done even though if it is against our own constitution, season, habitat, time etc. Environmental cues can also trigger the change in epi-genetics/ trigger’s point mutation, which is expressed in genomes. So environment should be favourable for healthy progeny.
- Diet regimen: The aahar rasa taken by the mother helps in the formation of sapta dhatu of the foetus. Whatever diet regimen the pregnant women adopt, the child will be developing the same qualities as in, if the mother consumes alcohol, the child will be born with Alpa Smriti (short-term memory) etc. Supplementing the women diet as advised in ‘Garbhini Paricharya’ helps in reducing foetal abnormalities.
- Avoid suppression of urge: Charak states that the suppression of urge may lead to intrauterine foetal death or premature delivery or abortion.
- Certain infectious diseases like syphilis can cause congenital malformation. So proper vaccination’s and medication should be advised to prevent future malformation.
- Information regarding the adverse effect on developing embryo smoking, exposure to X-Ray, alcohol consumption should be given prior to pregnancy.
- A person suffering from a latent disorder like diabetes should keep checking their blood sugar and keep it under control to minimize fetal loss.
- Taking a good family history will help to detect high-risk couple and may refer them to a primary counselling centre. Early detection and screening in the affected area should be made compulsory to avoid foetal loss.
- Prenatal diagnosis of the affected child should be done to prevent the expression of the condition and to minimize the clinical feature of the disease.
- Change of habitat: Certain regions have the epi-genetics for certain inherited disorders like in central Asia and Mediterranean region is highly prone to sickle cell anaemia. Information on availability and implications of carrier testing for the specific genetic disorder such as G6PD deficiency should be provided to the family at risk.
- Education about inheritance, testing, management, prevention and resources for the treatment should be informed. There is a special provision of the rehabilitation centre for inherited disorders individual, which is sponsored by various NGO’s, government and private institution’s.
Above all measures will help in minimizing the national burden of individual’s suffering from the inherited disorder.