Physician Education

Contemporary Issues in Medicine: Genetics Education

Am. Assn. Med. Colleges Report VI, 2004, pp. 1-12

Preamble

Although genetic factors have been recognized to play a role in health and disease since the beginning of the twentieth century, until recently the contribution of genetics to medical practice was limited to a set of important, but rare, disorders. Recent events, especially the sequencing of the human genome, have introduced new approaches to diagnosis and therapy, and have broadened the scope of genetics to include common disorders and preventative strategies of public health significance. With the general recognition that genetic medicine will play a much larger – indeed, central - role in the work and knowledge of the practicing physician of the future, the challenge to medical education today is to determine the level of knowledge about genetics that students graduating from medical school need to acquire. Genetics cuts across all areas of medical practice, creating a challenge in providing coherent exposure and an opportunity to integrate learning across multiple disciplines. Furthermore, practical applications of genetics in medical practice are only beginning to emerge, and will likely mature at different rates in different areas. Genetic medicine, therefore, presents a rapidly moving educational target, with great promise, but relatively few examples of current application. Two groups, The National Coalition for Health Professional Education in Genetics and The Association of Professors of Human and Medical Genetics/American Society of Human Genetics (NCHPEG and APHMG/ASHG), have given considerable thought to the core competencies required of the generalist health provider. The task here is to give that same consideration to the education of the general physician.

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Comments

If you (or, more likely, your administrators and other faculty) need convincing that genomics is useful in medical education, this AAMC report is the place to start.  This short report details the needs for genomics education not only for current students in their clinical rotations, but also for their residency in 5 years and practice in 10 years.  The table on page 9 (What Do Physicians Need to Know, and When Do They Need to Know It?) is especially useful.  Hardcopies can be obtained from the AAMC.

Genomics and the family physician: Realizing the potential.

Collins, F, 2004. Am.Fam.Physician 70:1637-1640.

Intro. Comment:

The dawning of the genome era is changing the scope of care for family physicians, with significant implications for the design of future health care delivery systems. Many consider the imminent introduction of genomics into clinical medicine to be the most significant advance in health care since antibiotics were introduced. Being able to build on the strengths of the physician-patient-family relationship enhances the potential for family physicians to realize the benefits of genomic technology. Knowledge of the individual patient across his or her lifespan provides an excellent foundation from which to begin integrating genomics information to improve health outcomes.

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Primer on medical genomics. Part VIII: Essentials of medical genetics for the practicing physician

Ensenauer, RE et al., 2003. Mayo Clin. Proc. 78 (7): 846-57.

Abstract

After the mapping and sequencing of the human genome, medical professionals from essentially all specialties turned their attention to investigating the role genes play in health and disease. Until recently, medical genetics was considered a specialty of minor practical relevance. This view has changed with the development of new diagnostic and therapeutic possibilities. It is now realized that genetic disease represents an important part of medical practice. Achievements in cancer genetics, in the field of prenatal diagnostics (including carrier testing for common recessive disorders), and in newborn screening for treatable metabolic disorders reinforce the rapidly expanding role of genetics in medicine. Diagnosing a genetic disorder not only allows for disease-specific management options but also has implications for the affected individual's entire family. A working understanding of the underlying concepts of genetic disease with regard to chromosome, single gene, mitochondrial, and multifactorial disorders is necessary for today's practicing physician. Routine clinical practice in virtually all medical specialties will soon require integration of these fundamental concepts for use in accurate diagnosis and ensuring appropriate referrals for patients with genetic disease and their families.

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Comment

A concise description of what a practicing physician should know about human genetics. With ample figures and tables, the article covers chromosomal disorders, single gene and multigenic disorders, pedigrees and a brief discussion of tests for genetic defect and a short glossary.

Practicing medicine at the front lines of the genomic revolution

Rubinstein, WS & Roy, HK, 2005. Arch Intern Med. 165(16):1815-7

Intro. Paragraph

There is unequivocal evidence that most common illnesses, such as coronary atherosclerosis, diabetes, many cancers, obesity, and certain psychiatric diseases (eg, schizophrenia), are due to interactions between multiple genetic and environmental factors. While humans are 99.9% genetically alike, the dissimilarities of the remaining 0.1% of the human genome contribute importantly to the occurrence of human disease. These differences are composed of about 10 million common variants (present in 1% or more of alleles) and many more rare variants. Numerous reports have implicated genetic variations in the propensity toward (or resistance to) illness and the response to medical treatment. There has been considerable success in the use of genomics for mendelian disorders such as cystic fibrosis, Huntington disease, and hereditary breast-ovarian cancer (BRCA1 and BRCA2). However, many of the most common disorders lack simple mendelian inheritance and are impacted by multiple genetic events along with complex nongenetic modulators (eg, epigenetic events from environmental factors). The Human Genome Diversity Project aims to catalog and study human variation, thereby shedding light on complex illnesses.

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Comment

This editorial emphasizes the responsibilities of physicians in preparing for and participating in the effects of genomics on medical practice. In addition to an awareness of the basic science, physicians will need to be able to evaluate the reliability and the limits on inferences made from genomic studies.