Medical genetics is the application of genetics to the study of human health and diseases. As a profession, medical genetics is usually a mixture of both clinical services and research. Worldwide, services can include diagnosis, counseling, and management of birth defects and genetic disorders. How medical genetics is actually practiced depends on several factors, including the expertise and training of the professionals involved, the expertise available within any given medical facility, and the structure of the practice of medicine within a given society.
In the United States, the practice of medical genetics includes two different career tracks, both requiring certification by the American Board of Medical Genetics (ABMG): the medical geneticist and the clinical geneticist. A medical geneticist holds a Ph.D. and is certified in medical genetics. Typically a medical geneticist is a highly trained research laboratory professional who can additionally take on the role of consultant to physicians. A clinical geneticist is a physician (either a doctor of osteopathy or a medical doctor) involved in all parts of clinical practice related to genetic disorders. Working closely with patients, clinical geneticists identify, diagnose, determine the prognosis of, develop predictive tests for, treat, and manage genetic diseases. They can also be active in conducting research on genetic disorders and studying theoretical genetics, and they usually help to administer and set policies for the clinical genetics profession and for medical centers in general.
Clinical geneticists also can be involved in the bioethical debates and policy-making issues concerning how genetic information is gathered, who has access to it, and how that access should be regulated. This role is becoming increasingly important as society struggles to deal with the tremendous explosion of genetic information arising as a consequence of the Human Genome Project. Administrative roles for clinical geneticists can include formulating plans and procedures for clinical genetic services, scheduling the use of medical genetics facilities, and teaching interns and residents the methods and procedures involved in the diagnosis and management of genetic disorders.
Very few clinical geneticists develop a private practice. Instead, they typically work in a team environment within regional medical centers alongside scientists, medical geneticists, genetic counselors, and other academics. Most hospitals specializing in pediatric care will also have clinical geneticists on their staff. Some large national clinics have entire departments devoted to the practice of medical and clinical genetics.
Physicians are attracted to the practice of clinical genetics for a variety of reasons. Many enjoy understanding the evolving human gene map, the rapid technological advances in the field, and the opportunity to perform laboratory research as well as practice medicine. They enjoy the challenge of applying the advances in the molecular basis of disease to the care of patients. As a group, clinical geneticists derive satisfaction by remaining close to the "cutting edge" of new discoveries in genetic diseases, which challenges them to remain current while constantly using their knowledge and skills to provide innovative and effective medical services.
Many are attracted to the profession because it allows them to develop long-term relationships with patients and their families. Others find that the narrow focus of clinical genetics is more to their liking than the broader disciplines of internal medicine or pediatrics. Within clinical genetics, physicians can develop their own disease specialty if they choose, which for some provides a more rewarding work environment, giving them the opportunity to make an impact on both research and the lives of patients whose diseases may be rare and often poorly understood by other medical practitioners. Clinical geneticists enjoy complex problem-solving, taking care of people, and paying attention to details that others may miss. They are good listeners.
Students interested in clinical genetics as a profession should become familiar with mathematics, chemistry, biology, and some physics, while still in high school. Courses aimed at developing communication and writing skills are also valuable for students preparing for a career in clinical genetics. Because the practice of clinical genetics requires a medical degree, students must first receive a bachelor's degree, enrolling in courses that meet medical school admission requirements.
After obtaining a medical degree, clinical geneticists typically complete three to five years of residency in medical disciplines approved by the Accreditation Council for Graduate Medical Education (ACGME), followed by a two-to three-year fellowship that is approved by the ABMG, in clinical genetics itself. Certification can be in clinical genetics or in more focused subspecialties, including clinical cytogenetics, clinical biochemical genetics, clinical molecular genetics, and molecular genetic pathology. Certification requires the successful passage of a national examination that is given at regularly scheduled intervals. To maintain certification, clinical geneticists must fulfill continuing education requirements throughout the duration of their career.
Both the ACGME and ABMG maintain a list of approved programs that lead to certification as a clinical geneticist. Approved residency programs include clinical and academic components. Approved programs expose the resident to a patient population large enough to develop an understanding of the wide variety of medical genetic problems. They enable direct involvement in genetic research laboratories, where students learn to critically interpret laboratory data. They include graduate-level course work in basic, human, and medical genetics, as well as clinical teaching conferences, and they foster the development of the communication skills necessary to interact and sustain a long-term therapeutic relationship with patients and their families.
One need not necessarily decide upon the profession of clinical genetics prior to entering medical school or even upon receiving a medical degree or completing a full residency. Traditionally, the ABMG has accepted physicians into clinical genetics programs who come from approved residency programs in pediatrics, obstetrics-gynecology, and internal medicine. This is because the profession of clinical genetics originated from the treatment of inherited diseases that are initially observed in newborn infants and children. It is still within these disciplines that many physicians develop a secondary interest in clinical genetics, during residency or even later in their medical career. However, the field of medical genetics is rapidly changing, due to the recognition that many genetic disorders result in symptoms that are delayed until adulthood. As a consequence, clinical geneticists are now beginning to provide their services to adults as well.
The Human Genome Project has also brought the realization that clinical genetics involves more than single-gene and single-chromosome conditions. Genetic medicine is becoming applicable to many kinds of complex diseases and disorders such as cancer, heart disease, and asthma, to name a few well-known conditions.
The 1,100 certified clinical geneticists registered in the United States in the year 2000 were too few to keep up with an ever-increasing demand for their services. Students interested in pursuing clinical genetic careers can expect that the number of subspecialties will continue to grow, that both the ACGME and ABMG will continue to strive to provide new certification programs and career tracks, and that the concept of clinical genetics may become an integral component of "well" medical health care.
Diane C. Rein
Accreditation Council for Graduate Medical Education. <http://www.acgme.org>.
American Board of Medical Genetics. <http://www.abmg.org>.
Careers in Human Genetics. University of Kansas Medical Center's Genetics Education Center. <http://www.kumc.edu/gec/prof/career.html>.
Guide to North American Graduate and Postgraduate Training Programs in Human Genetics. American Board of Medical Genetics. <http://www.abmg.org/genetics/ashg/tpguide/intro.htm>.
National Coalition for Health Professional Education in Genetics. <http://www.nchpeg.org>.
Webliography for Clinical Geneticists. The Federation of American Societies for Experimental Biology. <http://www.faseb.org/genetics/webliog.htm>.
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