One in every 100 Americans is born with a serious genetic disorder, and more will face a disease with genetic components in their lifetime. In the past decade, fledgling genetic science has identified more than 4,000 diseases connected to genetic factors. Genetic doctors and testing have become relatively common. But what is genetics'? How do these doctors and their tests work, and what if anything can they change? Dr. Scheuerle walks us through this new field and explains the basics, detailing diseases and disordes that can present in each life stage: in infancy and childhood, in puberty and adolescence, and in adulthood as well as old age. The text addresses genetic issues that might be considered in pregnancy and pregnancy planning. Also discussed are prenatal testing procedures, and talking about genetic disease with children and teenagers.
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About the Author
Angela Scheuerle, M.D. is a Clinical Geneticist in private practice, as well as Medical Director for the Texas Birth Defects Research Center. She is also Medical Director for the Dallas Craniofacial Center and Genetics Medical Center. She is a Faculty Member for the Program of Ethics in Science and Medicine at the University of Texas Southwestern Medical School. Scheuerle is also an Adjunct Faculty Member at the School of Public Health at the University of Texas, and a Volunteer Faculty Member for the Clinical Ethics in Medicine course at the University of Texas Southwestern Medical School at Dallas.
Table of Contents
Basic Things to Know
What is a genetics doctor?
Primer on Family History
Who is affected by Genetic Disease?
DNA, Chromosomes and Genes
Pregnancy and Pregnancy Planning
Forewarned and Forearmed
Inherited Genetic Risks
Hidden Genetic Risks
What if a test is positive?
Genetics in Infancy and Childhood
Abnormalities in the Fetus and Infant
Abnormalities in the Child
When the Problem Cannot Be Fixed
Genetics in Puberty and Adolescence
When Things Go Right
When Things Go Wrong - Female
When Things Go Wrong - Male
Adult Genetic Disease
Genetic Conditions that Come on Later
Genetics of Common Adult Diseases
Knowledge is Power
What People are Saying About This
"[A]n interesting and informative book, which will be of great help to persons and families who are dealing with the possibility or presence of genetic diseases. Strengths of the book include placing genetics into the contexts of peoples' lives, providing a scientific basis to help support them in making decisions consistent with their own moral principles and beliefs about health and medical care."
"Excellent primer on genetics for those not versed in medicine. Difficult medical terminology is explained using clear, easy to understand words. This is a book I would recommend reading before visiting a Geneticist. It provides the reader with a basic understanding of genetics and the background to better discuss medical concerns with a doctor."
"While I have some general knowledge of the topics covered, I quickly encountered new information that broadened my appreciation of the current practices of medical genetics. Had this information been as readily available twenty-five years ago when my oldest son was tested, I could have made more informed decisions. Now, I will be able to offer him better advice about genetic counseling if he chooses to have a family. Dr. Scheuerle's approach should be very useful for her intended audience."
"The great strides occuring in modern medical science increase the chances that a patient will be referred to a physician who specializes in genetics, bringing everyday people in contact with what to them is a new, confusing, and complicated portion of the medical world. Dr. Scheuerle provides clearly articulated information and advice to persons who find themselves in such a situation and who want to know more about this fascinating branch of medicine."