Essays on Genet

Introduction

Exom sequencing is also known as whole exom sequencing (WES). This sequencing technique is used to sequence all the expressed genes in a genome also called as exom. It is one of the most widely used targeted sequencing methods. The exom which is the protein coding region of the human genome consists of less than 2% of the genetic code. This region is responsible for containing more than 85% of known disease-related variants. Thus, whole exom sequencing is a cost-effective alternative to whole genome sequencing (WGS). This technique is efficient in identifying coding variants across a wide range of ...

Genetic counselling has been described as the process by which an individual fully understands and adapts to the contribution of genetic makeup in the medical and physiological state of the individual along with its influence on the familial implications of a disease condition [1]. Genomic medicine is at an all-time high in these years of fast developing technology in medicine [2]. The traditional process of genetic medicine and counselling involves the collection of data and interpretation of the history of pathology in the familial background of the individual along with the assessment of risks, informed consent, and psychosocial analysis ...

Introduction

Genetic counselling is defined as the information, guidance, and support provided by a genetic counsellor or medical geneticist to an individual, a couple, or a family about a genetic condition. The information may help the client (affected individual or family) understand how a gene variant underlies an observed phenotype, disease prognosis, and the probability of transmission to progeny. Apart from information to help the client make informed decisions about lifestyle, treatment, and reproduction, a counsellor provides psychosocial support to minimize the adverse psychological, intrafamilial, and social consequences of genetic testing. Therefore, genetic counselling has an educational as well as ...

Based on the initial symptoms, the patient most likely suffers from hypothyroidism or low thyroid hormone disorder. Further clinical tests and an examination of the family’s medical history reveals that the particular disorder could be Hashimoto’s disease; also called Hashimoto thyroiditis. Hashimoto thyroiditis is classified as an autoimmune disease. In autoimmune disease, one's immune system attacks the body’s tissue specifically the thyroid gland (Skugor & Wilder, 2006, p.2). By attacking the thyroid gland, the disease reduces the gland’s ability to produce thyroid hormones of substantial quantity. This condition leads to hypothyroidism. Thyroid hormone deficiency presents with ...