{"id":28955,"date":"2020-09-11T19:52:21","date_gmt":"2020-09-11T19:52:21","guid":{"rendered":"https:\/\/dev.mtelehealth.com\/?p=28955"},"modified":"2020-09-11T19:52:21","modified_gmt":"2020-09-11T19:52:21","slug":"using-telehealth-to-revolutionize-the-speed-of-making-rare-disease-diagnoses","status":"publish","type":"post","link":"https:\/\/drmiltie.com\/at-home-testing\/using-telehealth-to-revolutionize-the-speed-of-making-rare-disease-diagnoses\/","title":{"rendered":"Using telehealth to revolutionize the speed of making rare disease diagnoses"},"content":{"rendered":"\n

For a person living with a rare disease, it can take\u00a0five years or longer<\/a>\u00a0to receive an accurate diagnosis. With more than 40% of patients\u00a0initially misdiagnosed<\/a>, this \u201cdiagnostic odyssey\u201d can have serious and long-term health consequences for the\u00a0300 million individuals affected by rare diseases<\/a>\u00a0and their families. It is also incredibly frustrating.<\/p>\n\n\n\n

A key factor contributing to initial misdiagnoses is the shortage of clinical geneticists. Despite an estimated three-quarters of rare diseases<\/a> being genetic in origin, there are significant barriers in accessing appropriate genetic counseling.<\/p>\n\n\n\n

Telehealth can help break down these barriers.<\/p>\n\n\n\n

One of the ripple effects of Covid-19 is\u00a0increased adoption of telehealth<\/a>. In the U.S., health care providers are seeing 50 to 175 times the number of telehealth visits they saw before the pandemic, according to a recent\u00a0McKinsey study<\/a>, and more than half of providers now view telehealth more favorably. For patients, telehealth can improve access and eliminate added costs and burdens on families. The informal setting can also encourage more honest conversations with physicians.<\/p>\n\n\n\n

Although the rare disease field has been striving for innovation in patient care long before the global pandemic struck, the broad acceptance and evolution of telehealth has the potential to change the diagnostic journey for patients through the adoption of telegenetic consultations.<\/p>\n\n\n\n

Children\u2019s National Hospital<\/a> in Washington, D.C., has been working with Microsoft to pioneer the use of telegenetic consultations for patients and, more specifically, for those who are searching for a diagnosis, potentially for a rare disease. Since the inception of this pilot program<\/a> in 2019, the average time a patient waits to see a clinical geneticist has decreased from three to four months to just six to eight days.<\/p>\n\n\n\n

This pilot is supported by the Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease<\/a>, which was formed in 2018 to bring the rare disease and technology communities together to overcome the barriers to diagnosing these diseases, of which there may be as many as 8,000<\/a>, faster and more accurately.<\/p>\n\n\n\n

This innovative pilot uses virtual tools such as facial recognition, video appointments, and a triage system to deliver genetic assessments and counseling remotely to patients and their primary care physicians. Of the 30,000 patients who have been seen remotely by Children\u2019s National since the start of the pandemic in March, more than 1,500 have been seen by the hospital\u2019s rare disease team.<\/p>\n\n\n\n

\u201cThere is a unique opportunity in the use of telemedicine to do some transformative things for the diagnosis and care of patients with rare diseases,\u201d the director of the pilot, Dr. Marshall Summar, told us. Like us, he is a member of the Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease. \u201cWe are evaluating ways to depart from the traditional model based on a brick and mortar visit and see what is truly in the patients\u2019 best interest,\u201d said Summar, who is also the director of the Rare Disease Institute and chief of genetics and metabolism at Children\u2019s National Hospital.<\/p>\n\n\n\n

The pilot is also tackling other common challenges in delivering health care, including potential language barriers among global health care providers and patients. Children\u2019s National is working with Microsoft to use technology for real-time translations, allowing specialists in various countries to discuss the same patient who may have a rare disease. By connecting patients to rare disease specialists more quickly and enabling those specialists to partner with local providers to deliver care, the time to diagnosis can be accelerated.<\/p>\n\n\n\n

Here are five things we have learned so far from the pilot:<\/p>\n\n\n\n

\u201cIntelligent triaging\u201d allows for more appropriate use of specialty genetic services.<\/strong> The triage app allows primary care physicians to collect and enter patient information by using technology to streamline the process to make a referral to a rare disease specialist. By using the app, clinicians can solicit guidance from specialists and geneticists, including testing that might be needed before a patient\u2019s first consult. That helps filter out patients who don\u2019t have a rare disease, reducing unnecessary testing and ensuring effective use of resources.<\/p>\n\n\n\n

Telegenetic consultation strengthens communication across the health team. <\/strong>Specialists can communicate with primary care physicians and other health care providers, sharing patient information to make more informed decisions regarding diagnosis and care. By expanding communication and adding structure to the consultation process, the team can impart information more efficiently, which can lead to faster diagnoses.<\/p>\n\n\n\n

Telegenetic visits can enhance the current model of care.<\/strong> By providing initial insights into a patient\u2019s condition, potential diagnosis, and care plan, virtual visits help providers streamline subsequent in-person visits. Virtual visits are especially important during the Covid-19 pandemic, when only patients with the most critical conditions should go to doctors\u2019 offices or medical centers for in-person consultations.<\/p>\n\n\n\n

Telehealth helps reduce costs, improve access, and increase efficiency.<\/strong> Transportation costs, missed work, and frequent in-person visits are common challenges for patients seeking care from clinical geneticists. In addition, the relatively few specialists are typically located in urban areas, making it difficult for patients outside those geographies to seek care. Remote care makes it easier to access these specialists and eliminates added costs and burdens on families. The pilot has shown that virtual visits are shorter and more focused, yet still rate high in patient satisfaction.<\/p>\n\n\n\n

Virtual visits provide a window into patients\u2019 lives, helping improve patient\/provider communication.<\/strong> When health care providers are able to see patients in their home environments, it opens the door for more personal and honest discussions around their day-to-day struggles. Providers are able to form better connections with families by observing them at home, noticing behaviors that may not occur in a clinical setting, and recommending changes that can lead to more positive health outcomes.<\/p>\n\n\n\n

Those working on the pilot will continue integrating feedback from physicians to further shorten the path to diagnosis for those living with rare diseases. We expect to expand pilot testing beyond Washington, D.C., to other U.S. sites in 2021, including three to five regional pediatric societies and centers with genetic expertise or capabilities to treat rare disease, before expanding to national pediatric centers and societies and other countries in the future.<\/p>\n","protected":false},"excerpt":{"rendered":"

For a person living with a rare disease, it can take\u00a0five years or longer\u00a0to receive […]<\/p>\n","protected":false},"author":3,"featured_media":28956,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_uag_custom_page_level_css":"","_uf_show_specific_survey":0,"_uf_disable_surveys":false,"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","ast-disable-related-posts":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"categories":[61,14,189,143,159,165],"tags":[],"class_list":["post-28955","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-atouchaway","category-blog","category-covid-19-coronavirus","category-remote-patient-monitoring","category-telehealth","category-telemedicine"],"acf":[],"yoast_head":"\nUsing telehealth to revolutionize the speed of making rare disease diagnoses · Dr. Miltie, LLC - At-Home Testing<\/title>\n<meta name=\"description\" content=\"For a person living with a rare disease, it can take\u00a0five years or longer\u00a0to receive an accurate diagnosis. 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