BLOOD MATTERS: From Inherited Illness to Designer Babies: How the World and I Found Ourselves in the Future of the Gene by Masha Gessen
(Harcourt, April, 2008)
In this “Information Age,” what do we do with our so-called “knowledge.” How can we use it to make the best decisions? Or, at the very least, better decisions? How does the bursting, ever-changing world of genetics inform us about what we should do? Or what we can do?
Tower Books lists 28 books about genetics and genomes coming out this year. On March 18th, 2008, the Journal of the American Medical Association (JAMA) will publish a group of theme issues in its own pages and in its Archives of Dermatology, Neurology, Ophthalmology, and Surgery on Genetics and Genomics. Gearing its focus to “Personalized Medicine in a Variety of Specialties,” it aims to examine “the challenges that medical breakthroughs engender.”
Two years ago, a UK publishing house commissioned my book, GENETICS FOR THE NON-GENETICIST PHYSICIAN. Although the book is already outdated, it shows how underprepared physicians feel about integrating genomics into the everyday practice of medicine.
Where can all this research, all these publications, lead us? Can they help us decide what to do about our own thorny medical problems?
Although one of Tower's 28 books, Masha Gessen’s BLOOD MATTERS is subtitled From Inherited Illness to Designer Babies: How the World and I Found Ourselves in the Future of the Gene (Harcourt, April, 2008), her text disagrees with the promise—and ostensible premise--of her subtitle. By the end of the book, the reader is left still wondering what she would do were she in Gessen’s shoes.
In 2004, Gessen learned she had inherited the BRCA1 gene, predisposing her to breast and ovarian cancer. Bitterly blaming her mother and grandfather for visiting this “deleterious mutation” upon her, she set out to avert the evil decree, which is, she tells us, more common among Ashkenazi Jewish women.
What should she do? Should every at-risk individual for hereditary disease undergo testing? If the test is “positive” for disease—meaning that the future may be negative, should she opt for major surgery? In Gessen’s case, should she undergo prophylactic removal of her breasts and ovaries? Should she wait and see?
Is it a blessing or a curse to know about a predisposition to breast cancer? What about other diseases that Gessen discusses, such as Huntington’s disease, where nothing can be done? What about the very rare “maple syrup disease” found among Mennonites, where the future is so bleak for its victims?
Gessen hones in on her own life and choices, which are the primary focus of her book. Yet the sections about the choices facing Huntington disease’s sufferers are the most telling. Although breast cancer is not universally fatal by a long shot, Gessen seems most able to identify with individuals who might have inherited the viciously fatal Huntington disease gene.
When she talks about designer genes, she seems to leave her subject behind. Gessen would have done well to concentrate on four major areas surrounding common chronic adult-onset diseases: outcomes of genomic medicine; aspects of consumers’ needs for information; physicians’ delivery and counseling of genomic medicine; and communication barriers to integrating genomic medicine into useful preventive care and treatment.
In her JAMA study (2008:299 : 1320-1334) Maren T. Scheuner asks seminal questions that Gessen never addresses: “do patients who receive counseling and testing have better clinical outcomes in terms of mortality, decrease in incidence of disease, and better clinical responses to pharmaceuticals? And at what cost?"
BLOOD MATTERS is regrettably too self-involved to take the reader along with Gessen on her journey. The interested reader would learn more about what genes mean to our own medical care--our own futures-- by examining the provocative set of articles in the Genetics/Genomics Theme Issue of the JAMA.