Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants.

PurposeThe clinical utility of screening unselected individuals for pathogenic BRCA1/2 variants has not been established. Data on cancer risk management behaviors and diagnoses of BRCA1/2-associated cancers can help inform assessments of clinical utility.MethodsWhole-exome sequences of participants in the MyCode Community Health Initiative were reviewed for pathogenic/likely pathogenic BRCA1/2 variants. Clinically confirmed variants were disclosed to patient-participants and their clinicians. We queried patient-participants' electronic health records for BRCA1/2-associated cancer diagnoses and risk management that occurred within 12 months after results disclosure, and calculated the percentage of patient-participants of eligible age who had begun risk management.ResultsThirty-seven MyCode patient-participants were unaware of their pathogenic/likely pathogenic BRCA1/2 variant, had not had a BRCA1/2-associated cancer, and had 12 months of follow-up. Of the 33 who were of an age to begin BRCA1/2-associated risk management, 26 (79%) had performed at least one such procedure. Three were diagnosed with an early-stage, BRCA1/2-associated cancer-including a stage 1C fallopian tube cancer-via these procedures.ConclusionScreening for pathogenic BRCA1/2 variants among unselected individuals can lead to occult cancer detection shortly after disclosure. Comprehensive outcomes data generated within our learning healthcare system will aid in determining whether population-wide BRCA1/2 genomic screening programs offer clinical utility.

Episode-Based Payment and Direct Employer Purchasing of Healthcare Services: Recent Bundled Payment Innovations and the Geisinger Health System Experience.

One significant driver of the disjointed healthcare often observed in the United States is the traditional fee-for-service payment model which financially incentivizes the volume of care delivered over the quality and coordination of care. This problem is compounded by the wide, often unwarranted variation in healthcare charges that purchasers of health services encounter for substantially similar episodes of care. The last 10 years have seen many stakeholder organizations begin to experiment with novel financial payment models that strive to obviate many of the challenges inherent in customary quantity-based cost paradigms. The Patient Protection and Affordable Care Act has allowed many care delivery systems to partner with Medicare in episode-based payment programs such as the Bundled Payments for Care Improvement (BPCI) initiative, and in patient-based models such as the Medicare Shared Savings Program. Several employer purchasers of healthcare services are experimenting with innovative payment models to include episode-based bundled rate destination centers of excellence programs and the direct purchasing of accountable care organization services. The Geisinger Health System has over 10 years of experience with episode-based payment bundling coupled with the care delivery reengineering which is integral to its ProvenCare® program. Recent experiences at Geisinger have included participation in BPCI and also partnership with employer-purchasers of healthcare through the Pacific Business Group on Health (representing Walmart, Lowe's, and JetBlue Airways). As the shift towards value-focused care delivery and patient experience progresses forward, bundled payment arrangements and direct purchasing of healthcare will be critical financial drivers in effecting change.

The nature of change.

There is little doubt that health care is facing change. The conventional view of change, based on evolution, is that it is slow, gradual, and generally an evenly paced system change. Unfortunately, it is much more uneven, being burstlike, unpredictable, and, in fact, steplike. This pattern is called punctuated equilibrium, which is well illustrated by the metaphorical picture of the Devil's Staircase. These features call for a reassessment of how to cope with change. In addition to detecting change, responding to it and preparing for it require some understanding of the role of experimentation because the evolution algorithm is simple: experimentation, selection, and replication. Experimentation in radiology forms a continuum ranging from modifying traits to developing variants of diagnostic, interventional, and even new integrated services. We often describe experiments by relating their motives (ie, adaptation and innovation), but complex systems see only experiments available for selection. Experiments generating new services and business models are the important ones because they create the "subspecies" of radiology, which offers a robust set of options capable of withstanding new health care selection forces. Experimentation and selection are the prerequisites of replication (i.e., survival). It behooves radiology to combine and concatenate diversified, reactive, and innovative experiments to explore adjacent domains to expand its set of options. Just as in Darwinian evolution, major changes on the health care landscape will be at the specialty, ie, species and subspecies levels, rather than at the individual specialty trait level. Radiology needs a strong set of "subspecies" to succeed in selection to enhance evolution and allow replication.

New drugs for the treatment of attention-deficit/hyperactivity disorder.

Attention-deficit/hyperactivity disorder (ADHD) is the most common neuropsychiatric disorder of childhood. Recent research indicates that ADHD most often persists into adolescence and adulthood, and is associated with impairments in academic, social and occupational functioning. The ADHD diagnosis is based on history and clinical examination. There are no objective laboratory measures for diagnosis. ADHD is largely heritable. Its underlying pathophysiology has been theorised to include dysregulation of inhibitory noradrenergic frontocortical activity on dopaminergic striatal structures. Evidence shows that ADHD is highly responsive to pharmacological treatments resulting in global functional improvements. Although pharmacotherapy is recognised as the most effective treatment, additional components to optimise ADHD management include proper educational placement, parent management training and social skills development. Central nervous system stimulants, specifically methylphenidate and amphetamine, remain first-line pharmacological treatments. Atomoxetine, a selective noradrenergic re-uptake inhibitor, is the first non-stimulant compound to receive FDA approval for paediatric and adult ADHD. Other medication classes, including alpha-agonist antihypertensives, tricyclic antidepressants, other antidepressants such as buproprion, and the wake-promoting agent modafinil, are prescribed in off-label therapy. Ongoing development of new ADHD medications is expected to emphasise alternative and extended-release delivery systems and non-stimulant compounds.