To Test or Not to Test: A Guide to Genetic Screening and Risk

To Test or Not to Test: A Guide to Genetic Screening and Risk

To Test or Not to Test: A Guide to Genetic Screening and Risk

To Test or Not to Test: A Guide to Genetic Screening and Risk

Synopsis

Tests are a standard part of modern medicine. We willingly screen our blood, urine, vision, and hearing, and submit to a host of other exams with names so complicated that we can only refer to them by their initials: PET, ECG, CT, and MRI. Genetic tests of our risks for disease are the latest trend in medicine, touted as an approach to informed and targeted treatment. They offer hope for some, but also raise medical, ethical, and psychological concerns for many including when genetic information is worth having.

To Test or Not to Test arms readers with questions that should be considered before they pursue genetic screening.

  • Am I at higher risk for a disorder?
  • Can genetic testing give me useful information?
  • Is the timing right for testing?
  • Do the benefits of having the genetic information outweigh the problems that testing can bring?

Determining the answers to these questions is no easy task. In this highly readable book, Doris Teichler Zallen provides a template that can guide individuals and families through the decision-making process and offers additional resources where they can gain more information. She shares interviews with genetic specialists, doctors, and researchers, as well as the personal stories of nearly 100 people who have faced genetic-testing decisions. Her examples focus on genetic testing for four types of illnesses: breast/ovarian cancer (different disorders but closely connected), colon cancer, late-onset Alzheimer's disease, and hereditary hemochromatosis. From the more common diseases to the rare hereditary conditions, we learn what genetic screening is all about and what it can tell us about our risks.

Given that we are now bombarded with ads in magazines and on television hawking the importance of pursuing genetic-testing, it is critical that we approach this tough issue with an arsenal of good information. To Test or Not to Test is an essential consumer tool-kit for the genetic decision-making process.

Excerpt

Sometimes the speed of scientific advancement is astounding. Sometimes it is frustratingly slow. And sometimes the new findings bring with them a number of perplexing personal and public issues. All of these statements fit the field of genetics. They set the stage for this book.

At the turn of the twentieth century, the rediscovery of Mendel’s laws provided the spark for the investigation of inheritance in a variety of animals and plants. Human beings, for the most part, were left out (as subjects) of this upsurge in genetic research. Humans are difficult to study using Mendelian approaches. They have too few children, their generation time is too long, and they stubbornly refuse to reproduce with designated partners for the purpose of answering research questions. But by the turn of the twenty-first century, the situation had changed. Scientists had discovered how to isolate and study the genetic material directly. This catapulted humans to prominence as research subjects. Just by studying human genetic material, human DNA, it became possible to search out genes and to design ways to understand how these genes function and, occasionally, malfunction. We are now experiencing a tide of discovery that, on a daily basis, floods our scientific journals—as well as the popular media—with new genetic insights. Genetic tests of all sorts have been developed. These can probe the human genetic material and determine the status of whole chromosomes, parts of chromosomes, and of individual genes themselves. The number of such tests that are already available is considerable. This number will continue to grow as the boom in genetic research continues.

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