Do physicians know when to refer patients for genetic testing?

Primary care physicians (PCPs) are commonly approached with concerns involving patient genetics. This is a challenge because most PCPs lack expertise in genetic testing compared to their genetic counselor counterparts. Currently, the recommended best practice is to refer patients for genetic testing based on cancer-related family history questionnaires with a genetic counseling referral to discuss their results and any implications. However, the extent to which PCPs are using these questionnaires for this purpose remains poorly understood. In this cross-sectional study, PCPs were presented with the American Cancer Society's seven recommended family history questions to determine the percentage who consider each to be an indicator for referral to a genetics specialist. Questionnaires were completed by 88 of 260 attending PCPs at a national primary care review conference. The main outcome was the percentage of PCPs who identified each question as a trigger for genetic testing. Secondary outcomes included correlations with years of practice, genetics training, and methods used to obtain patient family history. Only two of the seven questions were considered triggers by most PCPs (range, 76-83%). The remaining five had lower percentages (range, 22-55%). Years of practice did not influence the number of triggers identified (Spearman correlation coefficient test: r = 0.05, p = 0.68). Few PCPs (3.4%) felt they had good to excellent genetics training during residency. Only 44.3% had genetics specialists available for referral. Overall, low percentages of PCPs consider the American Cancer Society questions to be triggers for genetic testing referrals. Furthermore, many do not have a genetics specialist or counselor available for referral. Addressing these concerns may help PCPs understand the basics of genetic testing and use standardized questionnaires to make appropriate referrals to genetic specialists, thereby reducing inappropriate referrals and improving appointment access to this precious resource for those who truly need it.

Utilization and Outcomes of Multigene Panel Testing in Patients With Pancreatic Ductal Adenocarcinoma.

PURPOSE: Guidelines recommend germline genetic testing (GT) for patients with pancreatic ductal adenocarcinoma (PDAC). This study aims to evaluate the utilization and outcomes of multigene panel GT in patients with PDAC. METHODS: This retrospective, multisite study included patients with PDAC diagnosed between May 2018 and August 2020 at Mayo Clinic Arizona, Florida, and Minnesota. Discussion, uptake, and outcomes of GT were compared before (May 1, 2018-May 1, 2019) and after (August 1, 2019-August 1, 2020) the guideline update, accounting for a transition period. RESULTS: The study identified 533 patients with PDAC, with 321 (60.2%) preguideline and 212 (39.8%) postguideline. Patient characteristics did not differ between the preguideline and postguideline periods. GT was discussed in 34.3% (110 of 321) of preguideline and 39.6% (84 of 212) of postguideline patients (odds ratio [OR], 1.26 [95% CI, 0.88 to 1.80]) and subsequently performed in 80.9% (89 of 110) of preguideline and 75.0% (63 of 84) of postguideline patients (OR, 1.10 [95% CI, 0.75 to 1.61]). Of 152 tested patients, 26 (17.1%) had a pathogenic variant (PV), of whom 17 (11.2%; 17 of 152) were PDAC-associated. Over the entire study period, GT was more likely in younger patients (65 v 70 years; P < .001), those seen by a medical oncologist (82.9% v 69.0%; P < .001), and those surviving more than 12 months from diagnosis (70.4% v 43.4%; P < .001). Demographics and personal/family cancer history were comparable between patients with and without a PDAC PV. CONCLUSION: GT remains underutilized despite National Comprehensive Cancer Network guideline recommendations. Given the poor prognosis of PDAC and potential implications of GT, efforts to increase utilization are needed to provide surveillance and support to both patients with PDAC and at-risk family members.

Experiences of Residents and Fellows at Mayo Clinic After the Rapid Implementation of Telemedicine During the COVID-19 Pandemic.

OBJECTIVE: The COVID-19 pandemic led to many changes across medical organizations and graduate medical education programs nationwide including the rapid implementation of telemedicine as a modality for delivering health care. The purpose of this study was to investigate the telemedicine experiences of residents and fellows with their self-reported level of preparedness, impact on their education including precepting, skill development, and patient-physician relationships, and perceptions of telehealth platforms and curricula in the future. METHODS: A total of 365 Mayo Clinic residents and fellows across three sites (Florida, Arizona, and Minnesota) were identified as trainees who conducted at least one telemedicine encounter from January 1, 2020 to June 30, 2020 and were sent an electronic survey by e-mail. RESULTS: There was a total of 103 completed surveys across various specialties with 58.3% female respondents, 63.1% residents, 35.0% fellows and 77.7% of respondents who attended medical school in the United States. Most trainees reported having very little to no exposure to telemedicine in their medical careers before the pandemic. The majority were satisfied with their first telemedicine encounter and found precepting comparable to in-person visits. The trainees in this study had a favorable view with 98.1% believing telemedicine will play a more prevalent role in the future and most agreed this should be included in medical school and residency training. CONCLUSION: Our survey found that after the implementation of telemedicine during the COVID-19 pandemic, the experiences of trainees at a multi-site academic center were overall positive. More research is needed on the perceptions of skill development (physical exam and history taking) during a telemedicine encounter and outlining an optimal telemedicine curriculum that can improve confidence in trainees.

More Than Skin Deep: Dermatologic Conditions in Athletes.

CONTEXT: Athletes are a unique group of patients whose activities, particularly in high-contact sports such as wrestling and football, place them at high risk of developing skin conditions. The correct diagnosis of sports dermatoses requires familiarity with their clinical characteristics. It is critical that primary care physicians recognize the most common skin disorders to provide prompt treatment and prevent transmission. EVIDENCE ACQUISITION: The Mayo Clinic library obtained articles from 2012 onward related to dermatologic conditions in athletes. STUDY DESIGN: Review article. LEVEL OF EVIDENCE: Level 3. RESULTS: Dermatologic diseases in athletes are often infectious and contagious due to close-contact sports environments. Sports-related dermatoses include bacterial infections, such as impetigo, ecthyma, folliculitis, abscesses, furuncles, carbuncles, erysipelas, and cellulitis; fungal infections, such as tinea and intertrigo; viral infections, such as herpes, verrucae, and molluscum contagiosum; and noninfectious conditions, such as acne, blisters, and contact dermatitis. CONCLUSION: This article aims to address the manifestations of the most common cutaneous diseases in athletes on the first primary care visit. It discusses the appropriate tests and most recent evidence-based treatments for each ailment. It also addresses return-to-play recommendations related to the guidelines and regulations of selected sports organizations in the United States. STRENGTH OF RECOMMENDATION TAXONOMY (SORT): C.

Nonsurgical management of primary hyperparathyroidism.

Primary hyperparathyroidism is the most common cause of hypercalcemia in the outpatient setting and is typically caused by a single benign parathyroid adenoma. Most patients with hyperparathyroidism are postmenopausal women. Patients can be asymptomatic or minimally symptomatic. Parathyroidectomy is the definitive cure for primary hyperparathyroidism, and no medical therapies have been approved by the Food and Drug Administration for this disorder. Guidelines for surgery have been established by a National Institutes of Health consensus panel, but many patients do not meet these guidelines or have comorbid conditions that prohibit surgery. This review describes alternative treatment options for patients who decide against or are unable to proceed with surgery.

Outcomes, health status, and medical resource utilization after bariatric surgery.

Surgical results, economic consequences, and shortterm health of obese patients were evaluated before and after bariatric surgery. Of 35 patients in Mayo Health Plan Arizona eligible for bariatric surgery and scheduled for gastric restriction with Roux-en-Y gastrojejunostomy, 22 (7 men, 15 women) completed pre- and postoperative (6- and 12-mo) short form (SF)-12 Health Surveys. Nineteen patients had open bariatric procedures and 3 had laparoscopic procedures. Comorbid conditions, hospital course, weight loss, and complications were examined. Health care utilization (actual dollars paid by plan) for the preceding year and at 1- and 2-yr follow-up were compared. Major comorbid conditions included diabetes mellitus or impaired fasting glucose, hyperlipidemia, sleep apnea, and hypertension. Mean length of hospital stay was 4.8 d after open procedures and 2 d after laparoscopic procedures. No serious operative or postoperative complications occurred. From a baseline average body mass index (BMI) of 51.9, the 6- and 12-mo BMI averages were 39.6 (23.7% decrease) and 35.3 (32% decrease), respectively. Both physical and mental status improved. From baseline, physical health changed 18 and 21.2 points at 6 and 12 mo, respectively (p < 0.001), and mental health changed 9.3 points at each interval (p =0.003). Each postoperative year, resource utilization decreased (mean= $1300 per patient). Our findings of good surgical outcomes, significant weight loss, improved health status, and potential financial savings in this small sample may help patients, insurers, and self-funded employer groups evaluate the appropriateness of bariatric procedures.

Primary care perspective on bariatric surgery.

The role of primary care physicians in identifying potential candidates for bariatric surgery and providing them with long-term postoperative care is gaining rapidly in importance. With the increased use of surgical procedures as treatment options for obesity, a knowledge of bariatric surgery is essential for providing optimal care. During the past decade, the number of bariatric procedures has increased, and refinements of these procedures have made them safer and more effective. Primary care physicians should know how to Identify appropriate surgical candidates and be familiar with available procedures, aware of potential complications and benefits, and able to provide lifelong monitoring and follow-up care. Thus, the primary care physician must be informed about surgical criteria, types of procedures, outcomes, complications, and the long-term monitoring needs of these patients.

A practical guide to community-acquired MRSA.

As the number of CA-MRSA skin and soft tissue infections continues to grow, it's important to know which patients are at greatest risk and which evidence-based treatment protocols to turn to when needed.

Celiac disease.

As many as one in every 100 to 200 persons in the United States has celiac disease, a condition resulting from an inappropriate immune response to the dietary protein gluten. The manifestations of celiac disease range from no symptoms to overt malabsorption with involvement of multiple organ systems and an increased risk of some malignancies. When celiac disease is suspected, initial testing for serum immunoglobulin A (IgA) tissue transglutaminase (tTG) antibodies is useful because it offers adequate sensitivity and specificity at a reasonable cost. A positive IgA tTG result should prompt small bowel biopsy with at least four tissue samples to confirm the diagnosis. However, 3 percent of patients with celiac disease have IgA deficiency. Therefore, if the serum IgA tTG result is negative but clinical suspicion for the disease is high, a serum total IgA level may be considered. Screening of asymptomatic patients is not recommended. The basis of treatment for celiac disease is adherence to a gluten-free diet, which may eliminate symptoms within a few months. Patients should also be evaluated for osteoporosis, thyroid dysfunction, and deficiencies in folic acid, vitamin B12, fat-soluble vitamins, and iron, and treated appropriately. Serum IgA tTG levels typically decrease as patients maintain a gluten-free diet.