The Pre and Post-test Genetic counselling can be provided at premarital, antenatal, and postnatal stages.
The advances of technologies in the genetics and genomics area have significantly contributed to diagnosis, management, treatment, risk assessment and prevention of genetic disorders. It is imperative to keep pace with the evolving technologies and their subsequent translation and impact on healthcare. With the inclusion of new biomarkers and genetic tests evolving around them, efficient communication of the test interpretation and the impact of the results on the patient and family members is essential. This is where the role of genetic counsellor is indicated as they are the mediators and an integrated member of healthcare providers in genetics and genomic medicine.
What Is Genetic Counseling?
Genetic counselling (GC) is the process of education and communication to the patient, families and clinician about their diagnosed condition, inheritance pattern and the genetic and genomic basis of the clinical disorder. The Pre and Post-test Genetic counselling can be provided at premarital, antenatal, and postnatal stages. The essential components of the counselling involve clinical history of the patient, pedigree evaluation, family history, risk determination, family studies, laboratory findings, if tested earlier and support to the patient in terms of management and preventive clinical options.
Areas Of Genetic Analysis And Counseling?
Genetic Disorders, Infertility with implications of preimplantation genetics, cancer, genetics involving mental retardation and birth defects, neurogenetics, infectious disease and common adult conditions (Hypertension, diabetes, asthma etc) are some of the contemporary areas of genetic testing and counselling. Counselling for familial disorders and tests related to reproductive genetics are very significant and needs to be dealt with care as there are clinical decisions that the couple would take basis the prenatal reports of the fetus.
What Is The Role Of Genetic Counselor?
A genetic counsellor is a liaison that connects the medical fraternity, patients, and the diagnostic labs. The counsellor provides complete and accurate information of the condition that the patient has been diagnosed with, determines the genetic basis, assesses the risk and genetic predisposition. The genetic counsellor identifies the appropriate testing options and provides a personalized medical recommendation for the patient and the doctor.
The genetic screening tests are relatively new, complex, and evolving. The counsellor makes it easier and explains the implication of the test results to the patient and family members in a very professional manner and in a local language for easier understanding. They interpret the genomic variants relevant to personalised health and help the patients in the decision-making process. They also help families handle psychosocial and ethical issues concerning their condition. An ideal genetic counsellor is the one who is knowledgeable, trained, patient, possesses good communication skills and has compassion and empathy towards the patients.
Who Needs Genetic Counseling?
Genetic Counselling is sought by any individual diagnosed with any genetic disorder and wishes to know if the disease is hereditary, if their family members are susceptible to the condition or if any treatment or preventive options are available. Counselling is also needed for couples who have a genetically abnormal child and where options like prenatal diagnosis is available so that they could test the subsequent pregnancies to have a healthy child. Women with frequent abortions or infertility also need counselling to understand the causes and possibilities of treatments that would enable them to experience motherhood.
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Frequently addressed GC cases
The frequently addressed GC cases at Metropolis Healthcare include Pre and Post-test counselling for screening tests like Non-Invasive Prenatal test (NIPT), Pre and postnatal diagnostic tests for chromosomal and genetic disorders like Chromosomal Microarray and NGS based whole exome/targeted panel. The counselling parameters included explaining the importance of NIPT test in High/Intermediate risk on Dual/Quadruple marker, Risk/Probability of a chromosomal aneuploidy in the fetus based on NIPT test results, impact of negative findings on a Microarray test, need for Whole exome test in defined or characterised phenotype such as Autism, Muscular dystrophies, Global developmental delay, etc. and Feasibility of Prenatal diagnosis in subsequent pregnancies basis the NGS reports. Appropriate genetic tests were also suggested to the families/couples on the basis of the clinical phenotypes.
To conclude, genetic counselling is a dynamic and a much-needed service aiming to bring about significant changes in the lives of individuals and families by providing them with options and preventive measures concerning the disease/condition. Genetic counselling plays a wider role in all medical specialties and several public health screening programs. Genetic counsellors are valuable partners and have a major role in the provision of genomic health care in years to come.
The article is contributed by Dr Monisha Banerjee, Senior Consultant, Molecular Genomics & Genetic Counselling – Metropolis Healthcare Ltd.
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