Impact of gene patents and licensing practices on access to genetic testing and carrier screening for Tay-Sachs and Canavan disease.

Genetic testing for Tay-Sachs and Canavan disease is particularly important for Ashkenazi Jews, because both conditions are more frequent in that population. This comparative case study was possible because of different patenting and licensing practices. The role of DNA testing differs between Tay-Sachs and Canavan diseases. The first-line screening test for Tay-Sachs remains an enzyme activity test rather than genotyping. Genotyping is used for preimplantation diagnosis and confirmatory testing. In contrast, DNA-based testing is the basis for Canavan screening and diagnosis. The HEXA gene for Tay-Sachs was cloned at the National Institutes of Health, and the gene was patented but has not been licensed. The ASPA gene for Canavan disease was cloned and patented by Miami Children's Hospital. Miami Children's Hospital did not inform family members and patient groups that had contributed to the gene discovery that it was applying for a patent, and pursued restrictive licensing practices when a patent issued in 1997. This led to intense controversy, litigation, and a sealed, nonpublic 2003 settlement that apparently allowed for nonexclusive licensing. A survey of laboratories revealed a possible price premium for ASPA testing, with per-unit costs higher than for other genetic tests in the Secretary's Advisory Committee on Genetics, Health, and Society case studies. The main conclusion from comparing genetic testing for Tay-Sachs and Canavan diseases, however, is that patenting and licensing conducted without communication with patients and advocates cause mistrust and can lead to controversy and litigation, a negative model to contrast with the positive model of patenting and licensing for genetic testing of cystic fibrosis.

A Crisis of Trust Between U.S. Medical Education and the National Board of Medical Examiners.

This Invited Commentary is an independent opinion piece and companion to the Perspective by Carmody and Rajasekaran that appears in this issue of Academic Medicine. The National Board of Medical Examiners (NBME), a 501(c)(3) nonprofit, is a powerful gatekeeper to the medical profession in the United States. According to publicly available tax data, the NBME, which has increased its number of income-enhancing products, had revenues of $153.9 million (M) and net assets of $177.6M in 2017, earnings (revenue less expenses) of $39.7M in 2013-2017, and a highly compensated management team. Medical students are ultimately the source of nearly all the NBME's revenue, and the NBME has contributed to the growth of medical student debt. The NBME has operated as a monopoly since its agreement in the early 1990s with the Federation of State Medical Boards to cosponsor the United States Medical Licensing Examination (USMLE). Although the NBME has developed valuable products and is ostensibly governed by a capable board, the NBME has inherent financial conflicts of interest and may be benefiting from the current "Step 1 mania" undermining undergraduate medical education. Here, the author makes 4 recommendations to reestablish the trust of the U.S. medical education community in the NBME: (1) the NBME should recuse itself from current discussions and policy-making decisions related to changes in the score reporting of the USMLE Step 1 exam; (2) the NBME should disclose and be transparent about all aspects of its finances; (3) new NBME products, changes in pricing, and changes to pass thresholds should be approved by an oversight committee, independent of the NBME; and (4) the NBME (and USMLE) should not charge students or residents for retaking any of its licensing examinations.

Student Perspectives on the "Step 1 Climate" in Preclinical Medical Education.

The United States Medical Licensing Examination Step 1 was implemented in the 1990s as the most recent version of the National Board of Medical Examiners' preclinical licensing examination originally created in the late 1960s. For the purposes of state licensure, the exam is pass/fail, but the Step 1 numeric score has in recent years become central to the residency application and selection process. Consequently, a medical student's Step 1 score is increasingly viewed as a key outcome of preclinical medical education.In this Invited Commentary, students from various institutions across the country draw on their shared experiences to argue that the emphasis on Step 1 for residency selection has fundamentally altered the preclinical learning environment, creating a "Step 1 climate." The authors aim to increase awareness of the harms and unintended consequences of this phenomenon in medical education. They outline how the Step 1 climate negatively impacts education, diversity, and student well-being, and they urge a national conversation on the elimination of reporting Step 1 numeric scores.

Costly and Unnecessary?

Many U.S. medical students, residents, and physicians want to see the elimination of the U.S. Medical Licensing Exam Step 2 Clinical Skills exam, saying it has a high price tag and an even higher first-attempt pass rate.

Cost analysis of objective structured clinical examinations.

BACKGROUND: The costs of objective structured clinical examinations (OSCEs) and other patient-centered examinations have not been well established. The published literature contains cost estimates ranging from $21 to over $1,000 per examinee. This wide range in cost estimates is due in part to both a lack of a consistent definition as to what should be included as an expense and a lack of understanding of how these expenses can be minimized. METHOD: In 1993-94 the authors conducted a literature review and defined and subcategorized costs related to the production and implementation of an OSCE into costs for personnel, standardized patients (SPs), and administration. An analysis was undertaken of how each of the subcategory costs can be minimized. RESULTS: Costs for physicians, patient trainers, support personnel, and data analysis are negligible if the personnel who perform these duties do so as part of their overall academic responsibilities. Costs for SPs can be minimized by developing a cadre of experienced patients as well as professional personnel who participate in a comprehensive program in which SPs are used in both teaching and evaluative modes. This contributes to the development of a psychometrically valid OSCE with a minimum number of stations and decreased costs. Administrative costs are fixed and not amenable to significant cost saving. A detailed cost analysis of a comprehensive OSCE given at the end of an Introduction to Clinical Medicine course at one institution is presented, illustrating the practical aspects of these cost-containment methods. CONCLUSION: Based on these considerations it appears financially feasible for an individual academic institution to develop and implement an OSCE.