Genetic Counselling: the biomedical bridge between molecular diagnosis and precision treatment

Abstract

Abstract Background Since the development of genomics, we are able to understand backgrounds of differential pathogenicity of metabolic disorders. Molecular diagnosis has become inevitable for metabolic, neuro-psychiatric and genetic disorders due to highly overlapping pathophysiological symptoms. The present lacuna between clinical prescription and molecular diagnosis is very prominent and can only be filled up through experts who can function as the bridge in between. Main body In this present review, the authors tried to focus on the role of genetic counselors in disease diagnosis as well as scopes of disease biology in utilizing the expertise of genetic professional for precision treatments of patients. We summarized four major disease areas, Cancer management, Obstetrics and Gynecology, Newborn Screening and Rare Genetic Disorders, where molecular diagnosis and genetic counseling can highly support the clinicians in precision treatment of the patients. Idiopathic reproductive failures, clinically overlapping neuro-psychiatric disorders, chromosomal aberrations in progressing tumors, rare genetic disorders all the disease areas can find out fruitful intervention when enlightened with molecular diagnosis and genetic counseling. Though, genetic counseling is commonly practiced in intervening reproductive problems, newborn screening and cancer, still the scope of genetic counselor in successfully intervening multiple rare genetic diseases as well as common hereditary life style disorders, remain extremely high. Conclusion The liaison between clinicians and geneticists, specifically clinical prescription and genetic diagnosis is one of the key demands of present age, which can be successfully fulfilled by the genetic counselors. For these reasons, genetic counseling is predicted as the biomedical career of future due to being in the vital position for successful implementation of precision medicine.

Keywords

• Genetic counselling
• Precision treatment
• Molecular diagnosis
• Newborn screening
• Recurrent pregnancy loss
• Infertility