We are pleased to present the volume Guidelines for Clinical Protocols in Genetic Research Recommendations for the Creation and Assessment of Clinical Research Protocols in Genetics.
This manual is intended as a possible help for researchers who wish to prepare a human genetic research project and for the ethics committees such projects will be submitted to.

Thanks to the Human Genome Project and the availability of powerful new methods of genetic analysis, more and more applications are submitted for genetic research, or for clinical research involving collection of biological samples for human genetic analysis and handling of genetic data.
This trend is illustrated in the tables at the beginning of the present volume.

In our opinion, there was thus a need for a text such as this, based on discussions among a team of experts; it comes at the right time to provide information and up-to-date knowledge that were not readily available before. The multidisciplinary group which drafted the present guidelines was representative of those most directly involved in this field in Italy – bringing together areas of expertise such as human genetics, bioethics, medicine and pharmacology alongside representatives of citizens, ethics committees, institutions, scientific societies and the pharmaceutical industry. The working group’s names are listed at the very beginning of this booklet. The Italian Society of
Human Genetics and the Smith Kline Foundation contributed to the conception and organization of the project.

The work of the group lasted about two years, involving plenary meetings and e-mail correspondence. The most important scientific and regulatory updates, at Italian, European and
international level, have been included. Contents range from general topics, such as the nature of genetic information and genetic tests, to more specific matters, such as the evaluation of risks and benefits and data protection. There are also chapters on study rationale, aims and design, sample size, sample identification, use and handling of biological samples, access to research results, commercial and patent rights, insurance cover, research in minors and mentally disordered subjects, and informed consent.
The publication’s aim of providing clear, practical information is reflected in the “Summing up and recommendations” section at the end of each chapter. For ease of reference, these are all included in the opening chapter “Summary and ecommendations”. The text also contains two check-lists for the creation and assessment of the research protocol and informed consent, text-boxes highlighting specific topics, tables and figures, a brief glossary of genetic terms used in research applications,
and a selected bibliography.

This volume will be distributed to all those potentially involved in human genetic research and can be obtained free of charge from the working group’s coordinator. Suggestions and constructive
comments submitted to the websites of the Italian Society of Human Genetics (http://sigu.accmed.org) and Smith Kline Foundation (www.fsk.it) are welcome and will be taken into consideration for a possible revised edition in the near future.

With our best wishes!

Verona and Milan, October 2006

Prof. Pier Franco Pignatti
Italian Society of Human Genetics

Dott. Paolo Rizzini
Smith Kline Foundation