Day 1: Rare Disease Research Network and National Children’s Hospital - Marshall Summar, Rare Disease Institute

Marshall Summar, M.D.
Rare Disease As a Unique Field of Medicine
Marshall Summar, MD
Margaret O’Malley Professor of Genetic Medicine
Director: Rare Disease Institute
Chief: Division of Genetics and Metabolism
Children’s National Medical Center

Is Rare Disease a Unique Field of Medicine/Science?
• Conditions are typically genetic and lifespan in nature
• Evidence based on small numbers of patients
– Limited incidence data
– Limited outcome data
• Patients/families are typically best source of information
• Use multiple specialties with coordination for each dz.
• Care expertise is limited.
Causes
Disease
Disease
Effects

Growth in Recognized Diseases
Source: Online Mendelian Inheritance in Man, Morbid Anatomy of the Human Genome
From 1989-Sept 2021, 6,934 new gene-phenotype descriptions.
4/week new G-Ps overall & 10.7/week new G-Ps since 2000.
6,980
~600
with a
therapy

Cystic Fibrosis
Sickle Cell Anemia
Down Syndrome
All of these effects are primarily the
result of collaborating on standards of
care and new therapeutic development
through sharing information.
Rare Diseases Are Now Chronic Diseases
Prevalence Increase is a trend

Economics

HOW RELEVANT IS RARE DISEASE IN HEALTHCARE?
Experience at Children’s National over 3 Years
(Over 1.5 Million Visits)
12
88
Outpatient First Visit
ICD-Rare ICD-NR
18
82
Admitted to Hospital
32
68
More than one visit
Net Physician Charges over this time (2016-2019): $4,748,000
Net Facility Charges over this time (2016-2019): $74,622,000
Most Common: Down Syndrome then Autism

NEONATOLOGY
23%
GASTROENTEROLOGY
12%
EMERGENCY MEDICINE
11%
CARDIOVASCULAR
SURGERY
9%
GENERAL
PEDIATRICS
7%
HOSPITALIST
6%
CRITICAL CARE
MEDICINE
5%
NEUROLOGY
5%
CARDIOLOGY
4%
ORTHOPAEDICS
3%
SURGERY
2%
NEUROSURGERY
2%
HEMATOLOGY/ONCOLOGY
2%
OTHER
9%
% of net collection by department (hospital fees) on
patients first seen by genetics; not including Genetics
N=521

9
Cost’s for Treating Orphan Disease

Workforce
Ø Since 1982, only 1,594 physicians have achieved board
certification in Clinical Genetics
Ø 324 have achieved boards in Biochemical Genetics.4
Ø the number of professionals passing the medical
genetics boards has plateaued since 1999. 5
Ø Likewise, there is a shortage of genetic counselors,
with only 3814 genetic counselors in the United
States.7

Global Commission to Decrease Time to Diagnosis for Rare Disease

SO, The Field of Rare Disease has challenges:
Ø More diseases and longer survival = more patients
Ø Treatment explosion
Ø Diagnostic explosion
Ø Patients going from acute to chronic model
Ø Geographic distance and access disparity between patients
Ø Financial impact on health system
Ø Workforce challenges in specialities

Clinical Models and Trends
one foot on the dock and one foot in the
boat
In rare disease we have the unique
opportunity to break old molds and try new
ways of doing things. We really don’t have
a choice.

How do we navigate these challenges?
• Collaboration
• New Care Models
• Technology
• Involve primary care providers
16

Consolidation into “Centers of Excellence”
Ø With limited workforce can create a Hub and Spoke model
Ø Can have public list/network of available facilities and expectations
Ø Can cross network to get expertise to patient and community.
Ø Two models
ØThe Topic Center
ØThe Generic Center
17

Collaboration
• NORD Clinical Centers of Excellence Network
• European Reference Network
• Rare Disease Clinical Research Network (NIH, research focused)
• WHO Collective Global Network for Rare Diseases (WHO CGN4RD).
• Global Commission to End the Diagnostic Odyssey for Children with Rare Disease
• International Rare Disease Research Consortium
• And more
18

The Central Model
Ø Mutual support
ØYounger workforce expects balance
ØExpertise can be shared in the hallway
Ø24/7 365 coverage
Ø Hub and Spoke Clinical Model
ØOutpost programs can get backup and triage network
ØStandardizes care more
ØMore cost effective for highly expensive treatments
ØWorks well in geographically spread areas
ØHeavily dependent on digital care delivery
Ø The more you do the better you get
19

Rare
Disease
Center of
Excellence
SMALLER
CENTERS
Clinical
Protocols
Diagnostic
Coordination
Advocacy
Technology
Research
•Clinical
•Bench
Education
•Training
•Patients
•Professionals
The Centers of Excellence Program

Using the Patient Flow Template
21

Telemedicine:
Improving the genetics and metabolic medical home
23
BENEFITS OF A
VIRTUAL
HOME VISIT
REMOVING BARRIERS
TO CARE
ACCESS MULTIPLE SPECIALTIES
Decreases wait times
Allows simple issues
to be addressed
quickly
Saves clinic slots for
patients that need to
be seen in person
Patients with autism
can be seen in home
setting
Dieticians can view
inside the home
refrigerator
Enables increased
frequency of visits
for high risk patients
Transportation
Child care
Fear of exposure to
illness for at risk
patients in hospital
setting
Missed work
Combine with in-
person visits when
deemed appropriate
Easy for multiple
providers/ locations
to share screen and
coordinate
telemedicine visits

Discrete Variant Record
Cross-functional Team = Success
Dr. Seth Berger - Geneticist
Ian Crumbley, BSN RN – Health Strategist
Eric Amavizca – Architect
Anne Hinson – Solution Designer
Siva Nalanagula - Developer
Du Nguyen - Developer
Shalini Purohit - Developer
Amanda Witecki - Developer

Genomic DNA
• Exons (180,000 exons, 30 million BP, 1% of genome, 140,000 variants on average from reference) 85% of
known disease variants in exons
• Genomic ( 2.6 out of 3 billion BP, 150 million variants, each patient identifies around 8,500 NOVEL variants,
3-4 million variants)
• RNA sequence/presence
• Mitochondrial DNA
Sequence
Change
Found
Diagnosis
No Change Found
Uncertain Change
Found
Prove Relevance
Sequence Analysis

Development
Began
Development
Complete
Deploy to Non-prod Deploy to Prod
Discrete Variant Background
Discrete results
saved to EHR
Report results
transcribed
into Discrete
Variant
May 2021 May 2021 June 2021
October 2020

Ø There is no generalizable platform serving as a source to disseminate treatment,
and monitoring protocols for rare disease patients to clinicians.
Ø Rare-Cap Phase is completing a digital platform and database of rare disease
protocols combined with crowdsourcing to improve the collection of new
information and curate existing data.
Ø This platform will serve as an evolving, database to house emerging treatment
information and knowledge on individual rare diseases.
Ø The platform will allow users to comment on content and crowdsource for the
best feedback/user input to continue to grow the database.

Functionality Actuality
• Free content
contributed by editors
(e.g., disease owners)
• Content evolves with
real time feedback
from the community
(e.g.,
doctors/patients)
• Content aggregation
(e.g., rare diseases),
rating, and discussion
• Follow forums (e.g.,
specific diseases or
hashtags)
• Data management
and form building
(e.g., rare disease
protocols)
• Person Management
Database
• User roles
• Voting
• Content management
system to host and
build websites
• Make user interfaces
“pretty” and “user
friendly”
Patchwork of Platform Functionalities

Day 1: Rare Disease Research Network and National Children’s Hospital - Marshall Summar, Rare Disease Institute

Recommandé

Recommandé

Contenu connexe

Similaire à Day 1: Rare Disease Research Network and National Children’s Hospital - Marshall Summar, Rare Disease Institute

Similaire à Day 1: Rare Disease Research Network and National Children’s Hospital - Marshall Summar, Rare Disease Institute (20)

Plus de Canadian Organization for Rare Disorders

Plus de Canadian Organization for Rare Disorders (20)

Dernier

Dernier (20)

Day 1: Rare Disease Research Network and National Children’s Hospital - Marshall Summar, Rare Disease Institute