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Cover of Genetic Testing Stories

Genetic Testing Stories

Genetic Alliance Monograph Series, Vol. 2

, MS, , MS, CGC, , , and , MA.

Washington (DC): Genetic Alliance; .

Here is a collection of incredible stories: the stories of men, women, and children who have suffered from uncertainty, misdiagnosis, a lack of options and, in some cases, tragic loss. This is also a collection of stories of hope and the search for answers, truth, understanding, and options. Overall, they reveal the raw interface between knowing and not knowing, and our search as humans to understand and strive for the best.

We give thanks first to the brave individuals who were willing to share their stories. They offer us a window into the world of diagnostic odyssey: a sometimes quick and effective label and other times a very long and frustrating journey. These are the pioneers in a new land of promise. But they are the ultimate pragmatists as well—they need safe and accurate tests, to be used as tools in the healthcare continuum, without undertaking an advocacy role for themselves.

We offer this collection as a panoramic, qualitative view of a small subset of the experiences of real individuals engaged in real testing.


Funding for this work was also provided by the Health Resources and Services Administration, Maternal Child Health Bureau, Genetics Services Branch, cooperative agreement # 1 U33MC07945-01-00, and Genetic Alliance.

Partial funding for this report was provided by the Genetics and Public Policy Center. The Center is supported at Johns Hopkins University by The Pew Charitable Trusts. Any opinions expressed in this report are those of the author(s) and do not necessarily reflect the views of The Pew Charitable Trusts or the Genetics and Public Policy Center.

Genetic Alliance is grateful to the individuals and families who so generously shared their stories. They offer us a model of openness that benefits all.

Copyright Notice

All Genetic Alliance content, except where otherwise noted, is licensed under a Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Bookshelf ID: NBK115609PMID: 23304752


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