Abstract

Genetic abnormalities cause phenotypic and clinical expressions through encoding of new or altered proteins. Such irreparable aberrations are preventable by understanding the nature of alterations and nurturing prenatal and pre-implantation diagnosis. Retrospective investigation of blood-linked relatives not only prevents the transmission of genetic aberrations to future generations but also help in understanding the impact on future health. However, more than the financial factor, psychological fear and emotion contribute as major hurdles of carrier screening. Preconception and pre-implantation genetic screening and testing are discussed with pros and cons. Carrier screening has reduced the incidences of prevalent genetic abnormalities in ethnic groups such as Ashkenazi Jewish (AJ) population. Genetic screening has been discussed at population and ethnic level with expanded carrier screening along with technological challenges and ethical and policy issues. Though there is expected trauma of stigmatization in the community, carrier screening has a pivotal role in controlling transmission of genetic abnormalities to offspring and lowering the burden of untreatable abnormalities of the genetic architecture.

Authors and Affiliations