The year 2000 is an exciting time for medicine. With the advent of the Human Genome Project, genetic causes of physical and mental diseases have been and will continue to be identified at a blistering pace. These discoveries will lead to drastic changes in the diagnosis and treatment of natural disease. Pathologists should be at the forefront of bringing these changes from the laboratory into clinical practice.

The two major technologies of the new millennium which will transform the practice of medicine are genetics / molecular pathology and information management. Pathologists are uniquely positioned to become leaders in both of these crucial areas. Through their role as directors of the clinical laboratory and through their responsibility over medical laboratory information systems, practicing pathologists are already intricately involved in molecular testing and medical informatics.  

During their medical residency, current pathologists-in-training are acquiring skills in performing and interpreting molecular tests in the patient care setting. They are also gaining knowledge of computer systems as well as managing and accessing large amounts of data in hospital medical record databases. Pathology residents who pursue specialized fellowship training in forensic pathology must bring these skills into the forensic community. The young forensic pathologist will be able to broadly adapt and apply these qualifications to the medicolegal world. In the field of forensic medicine, these more recent technologies will nicely complement the traditional fields of anatomy, histology, pathology and toxicology.

GENETICS AND MOLECULAR PATHOLOGY

Forensic autopsies provide many potential opportunities for the use of molecular studies. DNA testing is utilized for the purpose of identifying both the body of the deceased and identifying violent criminals through biologic materials left at a crime scene. However, there is also unlimited potential for the use of molecular testing for identifying natural causes of death. A recent article identified a molecular link between the sudden infant death syndrome (SIDS) and the long-QT syndrome in the form of an ion channel gene mutation¹. Identifying this molecular defect in a case of unexpected infant death without other findings may support a lethal arrhythmic event. Molecular studies in the forensic setting may demonstrate a genetic predisposition to disease that would provide critical information to surviving relatives and alert them to seek medical care. For example, some cases of thrombosis (factors V and II mutations, hyperhomocysteinemia), coronary vascular disease (hypercholesterolemia), and arrhythmia (long-QT syndrome) appear to have identifiable genetic causes. Finally, performing molecular tests for infectious agents may be used in cases of undiagnosed infections. Perhaps polymerase chain reaction (PCR) for viral diseases such as herpes virus in cerebrospinal fluid would be of use in some cases. The future identification of additional genetic defects may allow the forensic pathologist to confirm a predisposition to psychiatric illnesses such as depression, schizophrenia, or drug addiction. Such findings could certainly have significant implications in the medicolegal environment.

COMPUTER SYSTEMS / INFORMATICS
In the new millennium, genetic defects will be discovered at a rapid rate. Large volumes of data are being generated from the sequencing of normal and defective human genes. This volume of molecular data will provide tremendous amounts of information to computer databases. In order to utilize this information, forensic pathologists will need strong skills in computers and information systems.

They will be required to collect, organize and retrieve molecular data. Ideally, national and worldwide DNA databases will be established for identification purposes, and for cataloging clinically significant genetic polymorphisms and mutations. Interfacing with law enforcement databases such as fingerprint files and with medical record databases will be required. Such a network will provide extremely useful tools for the forensic pathologist. Digital documentation and imaging from autopsy cases and electronic data transmission may be useful once the legal aspects of security, validation and authentication of the electronic information have been defined. Forensic pathologists must be familiar with computers in order to know how to organize systems to meet their needs, and must also be aware of the associated legal issues.

POLITICAL PERSPECTIVES
Unfortunately, a major limitation on the widespread implementation of such technologies as molecular testing and elaborate computer systems is the expense. Molecular testing is an extremely high cost proposition. Forensic laboratories are typically funded by public sources. As we enter the new millennium, the U.S. Congress is considering the National Forensic Science Improvement Act of 1999, which would authorize 768 million dollars over five years to support forensic science services. Forensic pathologists are viewed as leaders in the forensic community. Therefore, the forensic pathologist of the future will need to be politically active; an advocate of the value of the forensic autopsy in order to increase awareness, maintain public funding for cutting edge technology, and continue high standards in the practice of forensics.

Popular culture in the form of books, television and movies has thrust forensic pathologists into the public eye. The public’s perception of “a pathologist” conjures images of Quincy and Kay Scarpetta. Forensic pathologists are also high profile figures in the local and national media, as was demonstrated by the O.J. Simpson trial. This exposure provides a unique opportunity for them to play a role as spokespersons for pathology and medicine in general. The Institute of Medicine report on errors in medicine brings to light the ability of the autopsy to provide a quality control measure in healthcare. Medical examiners are in an ideal position to be advocates of handgun safety and prevention of accidents, environmental hazards, and infectious diseases. Thus, skills in communication and public speaking are essential for the effective forensic pathologist of the new millennium.

CONCLUSION

The strong medical examiner of the future will require more than knowledge of the traditional fields of medicine. Newly trained pathologists will bring with them intensive knowledge of molecular diagnostics and data management, which will be invaluable to the improvement of forensic science.  In addition, future leaders in the field of forensic pathology will also develop and apply ancillary strengths beyond the scope of the science of medicine. Political advocacy and public speaking skills will be vital to maintaining support and continuing the high quality of forensic science services.

 

 

1.             Schwartz PJ, Priori SG, Dumaine R, et al. A molecular link between the sudden infant death syndrome and the long-QT syndrome. NEJM 343(4):262-267.