American Journal of Medical Genetics 110:412 (2002)

Book Review

GENETICS AND PUBLIC HEALTH IN THE21ST CENTURY.By M.J. Khoury, W. Burke, and E. Thomson, OxfordUniversity Press, New York, NY, 2000, 639 p.

Because public heath professionals will increasinglyuse genetic technologies and information in research,policy and program development, the purpose of thebook, as stated in the Preface, was to delineate aframework for the integration of advances in HumanGenetics into Public Heath practice. Even though thebook was written by many contributors from variousdisciplines, the editors succeeded in keeping uniformityof the format, and the book represents a definite entitydiscussing many aspects of the subject.

The book is divided in six parts. The first part con-sists of an overview of the principles of human geneticsin public health, and includes the presentation of aframework for the integration of human genetics intopublic heath that was developed as part of the Centerfor Disease Control (CDC) strategic plan. The secondpart relates to public health assessment in genetics, inparticular on various issues on surveillance of birthdefects and genetic diseases and disorders with a gene-tic component. The third part of the book is devoted topublic health evaluation of genetic testing, such asthe quality assessment program for newborn screen-ing. The last two parts of the book deal with someethical and social issues, education, and informationdissemination.

The main part of the book is on developing, im-plementing, and evaluating population interventions.Although there is one short chapter from the Nether-lands, and another referring to developing countries, itwould have been interesting to add experiences fromother countries, in particular from Europe and theWHO program on Human Genetics. I was surprised tosee that there are no chapters dedicated to carrierscreening programs or to prenatal screening programs.I understand, however, that this was purposeful, as

stated on page 69 in a chapter for which one of theeditors was an author: ‘‘. . .it is the authors’ views thatthe goal of Public Health genetic screening programsshould not be genotypic prevention, because thedecision to undergo prenatal screening diagnosis andto consider pregnancy termination is intensively perso-nal and should not be influenced by public health goals,professionals agencies or organizations. Although somegeneticists have assessed prenatal testing programs onthis basis, such goals can have eugenic implications.’’As a geneticist, I find this approach very disturbing,because the goals of prenatal genetic programs havenever included the abortion of abnormal fetuses. Thepurpose of carrier screening programs is to give theindividual or the couple, a choice to decide whether ornot to have the test and whether or not to use it duringa pregnancy. The programs for carrier detection ofhemoglobinopathies in Mediterranean countries andthe U.K., or of Tay Sachs disease among AshkenaziJews, have been very successful. A lot may be learnedfrom these programs because millions of individualshave been screened and much of the experience gainedshould be used in future Public Health genetic screen-ing programs, even if the aims are different. Similarly,the worldwide experience in the programs offering pre-natal diagnosis for Down syndrome should have beendiscussed.

In each of the six parts of the books there are excel-lent chapters that give very good summaries of each ofthe respective subject. These chapters may serve as thebasis for teaching relevant courses. It is my feeling thatthis book should become a reference to students andpractitioners not only in the field of Public Health butalso in the field of Medical Genetics.

Joel ZlotogoraDepartment of Community GeneticsPublic Health ServicesMinistry of HealthTel HashomerRamat Gan, Israel

DOI 10.1002/ajmg.10426

� 2002 Wiley-Liss, Inc.