Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).

BACKGROUND: In the United States, rare disease (RD) is defined as a condition that affects fewer than 200,000 individuals. Collectively, RD affects an estimated 30 million Americans. A significant portion of RD has an underlying genetic cause; however, this may go undiagnosed. To better serve these patients, the Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD) was created under the auspices of the Center for Individualized Medicine (CIM) aiming to integrate genomics into subspecialty practice including targeted genetic testing, research, and education. METHODS: Patients were identified by subspecialty healthcare providers from 11 clinical divisions/departments. Targeted multi-gene panels or custom exome/genome-based panels were utilized. To support the goals of PRaUD, a new clinical service model, the Genetic Testing and Counseling (GTAC) unit, was established to improve access and increase efficiency for genetic test facilitation. The GTAC unit includes genetic counselors, genetic counseling assistants, genetic nurses, and a medical geneticist. Patients receive abbreviated point-of-care genetic counseling and testing through a partnership with subspecialty providers. RESULTS: Implementation of PRaUD began in 2018 and GTAC unit launched in 2020 to support program expansion. Currently, 29 RD clinical indications are included in 11 specialty divisions/departments with over 142 referring providers. To date, 1152 patients have been evaluated with an overall solved or likely solved rate of 17.5% and as high as 66.7% depending on the phenotype. Noteworthy, 42.7% of the solved or likely solved patients underwent changes in medical management and outcome based on genetic test results. CONCLUSION: Implementation of PRaUD and GTAC have enabled subspecialty practices advance expertise in RD where genetic counselors have not historically been embedded in practice. Democratizing access to genetic testing and counseling can broaden the reach of patients with RD and increase the diagnostic yield of such indications leading to better medical management as well as expanding research opportunities.

Identification of individuals at high-risk for pancreatic cancer using a digital patient-input tool combining family cancer history screening and new-onset diabetes.

Capturing family history might be a valuable tool for identification of individuals at increased risk of pancreatic cancer, which would allow enrollment into pancreatic surveillance programs. In addition, weight loss and concurrent new-onset diabetes may be utilized as an early marker for pancreatic cancer. This study evaluates the yield of combining family history and the Enriching New-Onset Diabetes for Pancreatic Cancer (ENDPAC) model to identify individuals who could benefit from pancreatic surveillance. A novel questionnaire and digital input tool was created that combined questions on family cancer history and criteria of the ENDPAC model. Individuals meeting ENDPAC criteria were enrolled directly in the high-risk pancreatic clinic. Individuals who met the criteria for a significant family history of cancer were offered referral to a genetic counselor. The questionnaire was completed by 453 patients. Of those, 25.8% (117/453) had significant familial risk factors. Eighteen individuals (15.4%) completed genetic testing previously, of whom five had a pathogenic variant. Thirty-four (29.9%) out of 117 individuals with a strong family history - flagged by the questionnaire - underwent genetic testing. Four (11.8%) of these patients harbored a pathogenic variant. Additionally, through cascade family testing, two siblings were found to carry pathogenic variants. Four (0.9%) of the 453 patients matched ENDPAC criteria. Two were diagnosed with pancreatic cancer and the others were enrolled in the surveillance program. In conclusion, identification of high-risk individuals for pancreatic cancer can be achieved by combining family history screening and the ENDPAC model to facilitate referral to genetic counseling and high-risk clinics.

Nurse practitioner and physician assistant onboarding in a family medicine practice.

ABSTRACT: The nurse practitioner (NP) and physician assistant (PA) professions are rapidly growing. Historically, these professions have filled a health care delivery gap caused by lack of health care access and physician shortages. Many medical practices are more accustomed to adding new physicians as compared with adding new NPs or PAs. This article describes one institution's approach to develop and implement a successful NP/PA onboarding program. Several key components are discussed, including (1) established roles and responsibilities, (2) a clear timeline of the onboarding period including a foundational curriculum, (3) the mentor-mentee relationship, (4) the onboarding checklist, and (5) the onboarding itinerary. The objective was to have our NPs/PAs on a regular patient calendar within the 6-month period. The success rate with this has been 86%. In addition, there has been a 90% retention of NP/PA hires over the past 3 years. The authors believe this approach to NP/PA onboarding serves the patients well, providing excellent patient outcomes and patient experience.

Connecting the Dots of a Rare Connective Tissue Disease: Pseudoxanthoma Elasticum.

Pseudoxanthoma elasticum (PXE) is a rare, autosomal recessive connective tissue disease that manifests primarily in the skin, eyes, vasculature, and gastrointestinal tract. Most cases occur in women and are present in the third decade of life. Diagnosis is confirmed via skin biopsy or by genetic testing that reveals a variant ABCC6 gene. We present the case of a 68-year-old woman who came to the clinic to discuss her daughter's diagnosis of PXE, specifically, what testing she and her family should pursue. A family pedigree revealed a strong family history of abdominal aortic aneurysm (AAA). Although PXE has not been directly related to AAA, this raised concern for familial connective tissue disease. It was recommended that all family members undergo AAA screening with ultrasound, but that not all family members warranted genetic testing. Patients diagnosed with PXE should establish care with specialists to monitor for adverse outcomes.

Delayed Presentation of Basal Cell Carcinoma: A Case Report.

Basal cell carcinoma (BCC) is the most common skin cancer in the United States. Although BCC has a low metastatic potential, it can be locally invasive and destructive, especially when there is a delay in diagnosis or treatment. This can affect not only the surrounding skin, but deeper tissues including muscle, cartilage, and even bone. Primary care physicians often serve as the first line of defense in the recognition, diagnosis, and even treatment of skin lesions suspicious for BCC. Most low-risk BCC can be treated in the primary care office with electro-desiccation and curettage or surgical excision. We present a case of locally invasive BCC with significant soft tissue destruction of the neck, which was incidentally identified during an emergency department presentation for a myocardial infarction. It is the responsibility of primary care physicians to recognize the appearance of skin lesions suspicious for BCC and initiate or arrange for subsequent definitive diagnosis and treatment. Our intent in presenting this case is to illustrate a missed opportunity for earlier recognition and treatment because of lack of access to primary care, as well as to demonstrate the destructive nature of BCC when neglected over time. Comprehensive approaches to diagnosis and treatment are described elsewhere.

Patient-Centered Medical Home With Colocation: Observations and Insights From an Academic Family Medicine Clinic.

There is a movement in the United States to transform family medicine practices from single physician-based patient care to team-based care. These teams are usually composed of multiple disciplines, including social workers, pharmacists, registered nurses, physician assistants, nurse practitioners, and physicians. The teams support patients and their families, provide holistic care to patients of all ages, and allow their members to work to the highest level of their training in an integrated fashion. Grouping care team members together within visual and auditory distance of each other is likely to enhance communication and teamwork, resulting in more efficient care for patients. This grouping is termed colocation. The authors describe how the use of colocation can lead to clearer, faster communication between care team members. This practice style has the potential to be expanded into various clinical settings in any given health system and to almost all clinical specialties and practices.

"No Waiting" in the "Waiting Room": The Self-rooming Patient Pilot Study.

INTRODUCTION: Although patient timeliness and appointment flow are highly important for patients and practices, the impact of technology on improving these aspects of healthcare delivery are not widely studied. We evaluated the satisfaction and acceptability of using a handheld internet-enabled tablet computer (the Mobile Patient Communicator (MPC)) that uses interactive maps, and visual and written instructions to direct patients from waiting rooms to exam rooms independently of medical personnel. METHODS: At the time of appointment check-in, eligible patients attending their healthcare appointments at a family medicine practice received the MPC that provided them an online orientation about its use and function. The MPC directed patients to their assigned exam rooms. Patients completed pre-/post-visit surveys. We used Wilcoxon rank-sum tests for numeric variables and Fisher's exact tests for categorical variables. RESULTS: Among 200 participated patients, the median level of satisfaction was 9 (1=not at all, 10= very much satisfied), 177 (91%) were successful in finding their room, and 147 (76%) thought the device should be used in the future. Prior to using the MPC, patients ≥65 years old were less comfortable with using the device (median 7 vs. 9; P=0.001), expected to have more problems operating the device (yes 6% vs. 1%; P=0.002), and were less likely to use a computer daily (yes 51% vs. 91%; P<0.001) vs. <65 years old. After using the MPC, patients ≥65 years old were less satisfied with using the device (median 8 vs. 10; P=0.001) but were more likely to watch the video on the device (yes 70% vs. 54%; P=0.04) vs. <65 years old.  Conclusion: The pilot results show evidence that using this technology for self-rooming by patients is highly acceptable regardless of age and sex. The findings also indicate this technology was helpful in delivering health care-related information before face-to-face appointments.

Sharing is Caring: Minimizing the Disruption with Palliative Care.

There is an upward trend incidence of multiple chronic life-limiting conditions with a well-documented associated impact on patients and their caregivers. When patients approach the end of life, they are often faced with a challenging multidimensional burden while navigating a complex health care system. Patients and families/caregivers are faced with daily decisions, often with little or no frame of reference or medical knowledge. The "what, how, when, and where" puzzle during this challenging time can be overwhelming for patients and their families, and when clinicians do not contemplate this associated workload's impact on patients and caregivers' capacity for self-care, patients and caregivers scramble to find compensatory solutions, often putting their health care at lower priority. This consequently warrants the underlying importance of palliative care and integrating it into the patients' health care plans earlier. There is increasing evidence from recent trials that supported implementing national policies regarding the early integration of palliative care and its role in improving the quality of life, increasing survival, and supporting patients' and caregivers' values when making decisions about their health care while possibly minimizing the burden of illness. The mission of palliative care is to assess, anticipate, and alleviate the challenges and suffering for patients and their caregivers by providing well-constructed approaches to disease-related physical treatments as well as psychological, financial, and spiritual aspects. Communication among all participants (the patient, family/caregivers, and all involved health care professionals) ought to be timely, thorough, and patient-centric. Palliative medicine arguably represents an example of shared decision-making (SDM)-facilitating a patient-centered, informed decision-making through an empathic conversation that is supported by clinicians' expertise and the best available evidence that takes patients values and preferences into consideration. Palliative care teams often consider the burden placed on patients and their caregivers, thus treatment plans would be assessed and introduced into the patients' lives with reflection on the related workload and the potential capacity to take on those plans. Such an approach to pause-and-examine, understand-and-discuss, and assess-and-alleviate might provide a possible example of a health care system that is minimally disruptive to patients and their families. This is an opportunity to replace the information-filled encounter with a more constructive engagement and empowerment to all major stakeholders to participate-an axiom integral to palliative care. Using the best available evidence in caring for patients while enacting SDM, palliative care, primary care, and other subspecialty clinicians need to consider the significant workload and burden that comes with health care and thus explore pathways to minimize the disruption in patients and caregivers' lives. As we collaborate to end cancer and all other mobdeities, we a need a concurrent movement to transform this disease-centered, payer-driven health care era to a rather patient-entered, thoughtful, and minimally disruptive one will benefit patients and physicians alike.