and Genomics in Medicine

Genetics and Genomics in Medicine

The Practice of Genetics

However, genetic principles and approaches are not restricted to any one medical specialty or subspecialty; they permeate many, and perhaps all, areas of medicine. Here are just a few examples of how genetics and genomics are applied to medicine today:

A pediatrician evaluates a child with multiple congenital malformations and orders a high-resolution genomic test for submicroscopic chromosomal deletions or duplications that are below the level of resolution of routine chromosome analysis (Case 32).

A genetic counselor specializing in hereditary breast cancer offers education, testing, interpretation, and support to a young woman with a family history of hereditary breast and ovarian cancer (Case 7).

An obstetrician sends a chorionic villus sample taken from a 38-year-old pregnant woman to a cytogenetics laboratory for confirmation of abnormalities in the number or structure of the fetal chromosomes, following a positive screening result from a non-invasive prenatal blood test (see Chapter 17).

A hematologist combines family and medical history with gene testing of a young adult with deep venous thrombosis to assess the benefits and risks of initiating and maintaining anticoagulant therapy (Case 46).

A surgeon uses gene expression array analysis of a lung tumor sample to determine prognosis and to guide therapeutic decision making (see Chapter 15).

A pediatric oncologist tests her patients for genetic variations that can predict a good response or an adverse reaction to a chemotherapeutic agent (Case 45).

A neurologist and genetic counselor provide APOE gene testing for Alzheimer disease susceptibility for a woman with a strong family history of the disease so she can make appropriate long-term financial plans (Case 4).

A forensic pathologist uses databases of genetic polymorphisms in his analysis of DNA samples obtained from victims’ personal items and surviving relatives to identify remains from an airline crash.

A gastroenterologist orders genome sequence analysis for a child with a multiyear history of life-threatening and intractable inflammatory bowel disease. Sequencing reveals a mutation in a previously unsuspected gene, clarifying the clinical diagnosis and altering treatment for the patient (see Chapter 16).

Scientists in the pharmaceutical industry sequence cancer cell DNA to identify specific changes in oncogenic signaling pathways inappropriately activated by a somatic mutation, leading to the development of specific inhibitors that reliably induce remissions of the cancers in patients (Case 10).

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Nov 27, 2016 | Posted by in GENERAL & FAMILY MEDICINE | Comments Off on and Genomics in Medicine

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