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Genetic Screening

The role genes play

Genetics and Disease Genetics is one of the hottest buzzwords in medicine today. With technologies in place to explore the fundamental building blocks of life, enormous resources are currently being devoted to investigating the genetic basis of diseases, developing gene-based tests to predict how people will respond to therapies, and, looking to the future, using genetic information to help determine individualized courses of therapy based on genetic predilections—and maybe even manipulating the genes themselves to prevent or reverse disease.

But just what is known so far about genes, and how well can this information be used to treat disease now?

Genetic Testing for Colorectal Cancer

A Case Study

Genetic Testing for Colorectal Cancer A small percentage of colon cancers are caused by a rare inherited disease called Lynch Syndrome, or Hereditary Nonpolyposis Colon Cancer (HNPCC). The syndrome, caused by mutations of several genes, causes carriers to have about an 80% lifetime risk of developing colon cancer, as well as an increased risk of endometrial, ovarian, gastrointestinal, hepatobiliary, and other cancers. For a Broadway performer in her 40's who had the mutation, knowing about her genetic risk gave her the opportunity to choose her path and be proactive about her care. But not all patients are prepared to undergo genetic testing or to share such information with their families.

Lung Cancer Screening

Navigating confusion and controversy about CT screening for lung cancer

Lung Cancer Screening Detecting a disease in its early stages usually leads to a better chance of successfully treating it. So should we all go out and have ourselves screened for lung cancer just to be on the safe side? While there are strong advocates of computed tomography (CT) screening for lung cancer, the American Cancer Society does not recommend screening as a routine test. We weigh in on the question, which turns out to be more complex than one might expect. The Columbia High-Risk Lung Assessment Program uses an algorithm-driven approach to provide comprehensive, thorough care to patients with known risk factors for lung cancer.

Pancreatic Cancer Genetics

Cross-sectional view in a fused PET/CT scan shows a cancerous 'hotspot' in the pancreas of a patient with jaundice. Inherited gene mutations play a role in up to 25% of cases of pancreatic cancer. There is up to a 20-fold increase in the risk of pancreatic cancer in individuals with a family history of the disease. At least five distinct cancer syndromes account for a number of inherited pancreatic cancers. The Muzzi Mirza Pancreatic Cancer Prevention and Genetics Program of the Pancreas Center at Columbia University, under the leadership of Harold Frucht, MD, Program Director, analyzes family and personal medical history and provides recommendations for pancreatic cancer screening, genetic counseling, and testing as appropriate.

Fetal Cardiology

Genetic screening provides opportunities to give newborns optimum care.

Fetal Cardiology: Genetic screening provides opportunities to give newborns optimum care. For parents-to-be, perhaps nothing is more frightening than the prospect of giving birth to a child with a genetic defect—especially something as serious as a defect of the heart. At Morgan Stanley Children's Hospital/Columbia University Medical Center, pediatric cardiologists work hand in hand with specialists from maternal fetal medicine, genetics, pediatric surgery, and pediatric cardiac surgery. Of all newborns at the hospital diagnosed during 2007 with congenital heart problems, 67% were diagnosed before birth. The pediatric cardiology program has reached a level of success with reconstructive neonatal cardiac surgery where, with rare exception, survival is almost a given. The focus now is on optimizing quality of life for young patients as they grow.

What's your risk for developing a certain disease?

Risk assessments are questionnaires developed by the medical community to help identify an individual's potential for acquiring a specific disease or disorder. Based on analysis of thousands of patient case histories, risk assessments seek to correlate a person's background (factoring in such variables as race, age, family history, etc.) and current or past behaviors (eating habits, smoking, etc.) with their chances for developing a specific disease.

These assessments can be useful tools to enhance your awareness of particular risks and should lead you to information which suggests ways to change current behaviors to potentially improve and preserve your future health.

Click on the links below for a variety of health risk assessments:

Breast Cancer

Colorectal Cancer

Diabetes

Heart Disease

Obesity

Stroke


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Columbia University Medical Center NewYork-Presbyterian Hospital Patient Clinician Researcher