a new paradigm for metabolic medicine · workshop topics # presentations metabolic acidosis,...
TRANSCRIPT
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A New Paradigm for Metabolic Medicine
Mark S. Korson, MD
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A Promising Future for Metabolism?
• New diagnostics • Newborn screening • New therapies are being developed • Greater “metabolic awareness”
© 2016 Genetic Metabolic Center for Education
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A Promising Future for Metabolism?
• New diagnostics • Newborn screening • New therapies are being developed • Greater “metabolic awareness” (in pediatrics)
© 2016 Genetic Metabolic Center for Education
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Number Certifying in Biochemical Genetics (ABMG)
20
30
50
40
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35
DC
42
44
46
37 45
54
Newborn screening – USA, Nov/2014
Data from Therrell BL et al, 2015
43
35
43
46
33 43
42 42
41 43
49
22
42
37
22
23 49 44 43
39
45 35 40
48 44 41
43 43
44
46
46
50
36 44 41
42
37 37 41
48
45 40
46 42 47
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The Problem
§ Inadequate # of metabolic clinicians § Inadequate recruitment of metabolic trainees § Inadequate training of non-metabolic professionals
© 2016 Genetic Metabolic Center for Education
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The Problem
§ Inadequate # of metabolic clinicians § Inadequate recruitment of metabolic trainees § Inadequate training of non-metabolic professionals § Few options for transitioning patients into adult medicine… so they never leave the (pediatric) metabolic clinic
§ Identification of adult-onset metabolic disease is poor and inconsistent at best
© 2016 Genetic Metabolic Center for Education
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Inadequate # of metabolic clinicians
Threatens the care of
metabolic patients
© 2016 Genetic Metabolic Center for Education
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Inadequate # of metabolic clinicians
Threatens the care of
metabolic patients
Threatens the wellbeing of metabolic
professionals
© 2016 Genetic Metabolic Center for Education
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Current Approaches - 1
Increase the # of metabolic clinicians
© 2016 Genetic Metabolic Center for Education
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Current Approaches - 1
Increase the # of metabolic clinicians: • Funding from industry and disease
foundations to help support training in biochemical genetics
© 2016 Genetic Metabolic Center for Education
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Current Approaches - 1
Increase the # of metabolic clinicians: • Funding from industry and disease
foundations to help support training in biochemical genetics
• North American Metabolic Academy (NAMA)
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Current Approaches - 1
These programs mostly target and educate those who have already chosen a career in genetics.
© 2016 Genetic Metabolic Center for Education
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Current Approaches - 2
How are we going to attract young professionals to a career in metabolic medicine?
What about educating non-geneticists in metabolic diagnosis and management?
What about educating medical students, interns and residents?
© 2016 Genetic Metabolic Center for Education
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2007-2011
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More effective CME strategies
1. Active interventions > passive ones 2. Academic “detailing”, educates 1 on 1 3. Using multiple interventions à positive
impact 4. Face-to-face strategies followed up with
printed materials 5. Talking to a subspecialist is preferred over
reading books or journals
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Metabolic Outreach Service (MOS)
Began with generous support from: • Genzyme Therapeutics • Ucyclyd Pharma • Shire Human Genetic Therapies • Sigma-Tau, Inc • Actelion Pharmaceuticals • Biomarin Pharmaceutical • The Baby Lorenzo Gregory Scavio Fund
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Baystate Medical Center, MA MA
Dartmouth-Hitchcock Medical Center (NH)
Vermont Children’s Hospital Eastern Maine Medical Center
Maimonides Medical Center, NY NY
Boston Med Center
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• Educational workshops
• Scheduled rounds, conferences
• Patient Forums • Case reviews
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WORKSHOP TOPICS # presentations
Metabolic acidosis, hyperammonemia, hypoglycemia 46
Metabolic clue: The dietary history 13
Metabolic emergencies 12
Metabolic approach to hypoglycemia 10
Dysmorphic features in metabolic disease 10
Newborn screening: An overview 9
Metabolic questions for the Pediatric Board review 8
Metabolic approach: Liver disease in infancy 7
Metabolic approach to neonatal hypotonia/seizures 7
Metabolic approach to vomiting 6
Metabolic Clue: Myoglobinuria 6
Metabolic approach to hyperammonemia 5 A case of hepatosplenomegaly 4
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WORKSHOP TOPICS # presentations
Overview of metabolic disease and management 4
Psychiatric manifestations in metabolic disease 4
Metabolic diseases in adulthood 3
Metabolic causes of stroke 3
Metabolic Clue: The urinalysis 3
Newborn screening cases 3
Metabolic causes of pain 2
Metabolic Clue: Lactic acidemia 1
Metabolic causes of autism 1
Pregnancy and metabolic disease 1
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• Educational workshops
• Scheduled rounds, conferences
• Patient Forums • Case reviews
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• Educational workshops
• Scheduled rounds, conferences
• Patient Forums • Case reviews
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Patient Forums
Ellen, Fabry disease
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Patient Forums
• Patients and parents speak and share: – Their diagnostic journey – Living with their disease – Perspectives on therapy – What doctors do right and
what they do wrong – Their needs and hopes
Ellen, Fabry disease
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Patients don’t talk about facts.
They tell a story and people
remember stories.
Alena, Maroteaux-Lamy syndrome
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Damian - the diagnostic journey https://www.youtube.com/watch?v=0ufXPYyJres
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• Educational workshops
• Scheduled rounds, conferences
• Patient Forums • Case reviews
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Case Reviews
• On-site or long distance • This is NOT a satellite clinic – it’s about helping clinicians work through their own cases
• In the process, they learn something because they do the work
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Case Reviews
• On-site or long distance • This is NOT a satellite clinic – it’s about helping clinicians work through their own cases
• In the process, they learn something because they do the work
local metabolic competence increases
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The Statistics
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As of Jun 2011: • # of educational sessions = 184
• # of patient forums = 49 (15 disorders)
• # of case reviews = 387
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0
20
40
60
80
100
120
140
160
180
Oct 2007
LECTURES
0
50
100
150
200
250
300
350
400
450
CASE REVIEWS
0
PATIENT FORUMS
CUMULATIVE MOS DATA I
Dec 2008
Dec 2009
Dec 2010
Jun 2011
0
6
12
18
24
30
36
42
48
54
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0
20
40
60
80
100
120
140
160
180
Oct 2007
LECTURES
0
50
100
150
200
250
300
350
400
450
CASE REVIEWS
0
PATIENT FORUMS
CUMULATIVE MOS DATA I
Dec 2008
Dec 2009
Dec 2010
Jun 2011
0
6
12
18
24
30
36
42
48
54
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0
20
40
60
80
100
120
140
160
180
Oct 2007
LECTURES
0
50
100
150
200
250
300
350
400
450
CASE REVIEWS
0
PATIENT FORUMS
CUMULATIVE MOS DATA I
Dec 2008
Dec 2009
Dec 2010
Jun 2011
0
6
12
18
24
30
36
42
48
54
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As of Jun 2011: • TOTAL # participants in MOS = 6660
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Evaluation
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0
800
1600
2400
3200
4000
4800
5600
6400
7200
# PARTICIPANTS IN ALL MOS ACTIVITIES
CUMULATIVE MOS DATA II
Oct 2007
Dec 2008
Dec 2009
Dec 2010
Dec 2011
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Evaluations (lectures, patient forums)
• Achieved stated goals = 4.84
• Topic relevant = 4.6
• Presentation effective = 4.78
• Audience participation = 4.6
• Overall satisfaction = 4.78
• n=699-833
54321
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Evaluations
• Would this information change your practice?
§ YES = 734 (91%)
§ NO = 72
§ n=806
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Baystate Medical Center Lecture – Overview of acute metabolic disease
RESULTS OF PRE- AND POST-TESTING June 29-30, 2010
TOPIC PRE (% correct answers) POST (% correct answers) Urea cycle disorder testing 70 90 Significance of high ammonia 75 91 ER mgmt of metabolic crisis 53 94 Fatty acid oxidation testing 93 84 Triggers for metabolic crisis 61 93 Organic acidemias – testing 3 45 Metabolic disease + sudden death 50 74 Metabolic physiology 68 100 Hypoglycemia 59 65 Fatty acid oxidation defects 33 42 Metabolic disease testing 71 91 Metabolic disease testing 75 94 # of RESPONDENTS 33
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Baystate Medical Center Lecture – Overview of acute metabolic disease
RESULTS OF PRE- AND POST-TESTING June 29-30, 2010
TOPIC PRE (% correct answers) POST (% correct answers) Urea cycle disorder testing 70 90 Significance of high ammonia 75 91 ER mgmt of metabolic crisis 53 94 Fatty acid oxidation testing 93 84 Triggers for metabolic crisis 61 93 Organic acidemias – testing 3 45 Metabolic disease + sudden death 50 74 Metabolic physiology 68 100 Hypoglycemia 59 65 Fatty acid oxidation defects 33 42 Metabolic disease testing 71 91 Metabolic disease testing 75 94 # of RESPONDENTS 33
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Metabolic Lab Tests- # of tests ordered
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Metabolic Lab Tests- # of tests ordered
AMMONIA
2005 2006 2007 2008 2009 2010
Baystate 2630 2717 2958 Dartmouth 57 98 99 Vermont 70 90 109 Maimonides - 1355 1749
Onset of MOS
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Metabolic Lab Tests- # of tests ordered
AMMONIA
2005 2006 2007 2008 2009 2010
Baystate 2761 2555 2630 2717 2958 3452 Dartmouth 57 98 99 185 Vermont 103 80 70 90 109 176 Maimonides 1355 1749 2128
Onset of MOS
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Patients as Teachers
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Baystate Medical Center, MA MA
Vermont Children’s Hospital Eastern Maine Medical Center
Maimonides Medical Center, Brooklyn NY
Boston Medical Center
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MEDICAL COLLEGE OF VERMONT
SUNY DOWNSTATE - BROOKLYN
BOSTON UNIVERSITY MEDICAL SCHOOL
TUFTS UNIVERSITY SCHOOL OF MEDICINE
First year Biochemistry
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Patient Forums
The audience remembers!
They generate interest
From 2000-2007: • # of 1st year Tufts medical students requesting elective time in the Metabolism Clinic
0
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New interest - Patient Forums
The audience remembers!
They generate interest
2007-2014: • # of 1st year Tufts medical students requesting elective time in the Metabolism Clinic
18
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New interest - Patient Forums
The audience remembers!
They generate interest
2007-2014: • 18 electives • 3 summer projects in the clinic
• a 4th enrolled in the ACMG Summer Scholars program
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New interest - Patient Forums
The audience remembers!
They generate interest
2007-2014: • 18 electives • 3 summer projects in the clinic
• a 4th enrolled in the ACMG Summer Scholars program
• 3 declared they want to pursue genetic training
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2011…
The Metabolic Outreach Service ended
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Missing information
• Long term evidence of retention of information? • Actual change in thinking or practice? • Does an interest in metabolism actually lead to
a career choice?
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Limitations of the MOS
• Labor intensive • Not exportable • Impacted the medical students and the trainees
mostly, not the attending physicians and subspecialists
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Lessons learned from the MOS
1. Don’t teach what you want to teach; better to teach what they want to learn (need to know).
2. Don’t pitch high; pitch real. 3. Don’t teach if a patient can tell a story instead. 4. Repetition over time is a great teaching tool. 5. Learning styles are individual; accommodate as
many as possible. 6. Teaching to diagnose is different from teaching
to manage.
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Lessons learned from the MOS
7. Adult medicine is different from pediatric medicine; adjust accordingly.
8. Attempt to prove that what you teach is being learned.
9. Don’t be afraid to experiment (but learn from it). 10. Attention spans are short. Make it fun. Mix it up.
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Lessons learned from the MOS
7. Adult medicine is different from pediatric medicine; adjust accordingly.
8. Attempt to prove that what you teach is being learned.
9. Don’t be afraid to experiment (but learn from it). 10. Attention spans are short. Make it fun. Mix it up.
TEACHING IS GOOD TEACHING WELL IS POWERFUL
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With help
• Jerry Vockley, MD, PhD • Joe Ogrodnik and Private Investors and
Advisors Group (PIAG), Pittsburgh
© 2016 Genetic Metabolic Center for Education
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• Recordati Rare Diseases • Genzyme Therapeutics • BioMarin Pharmaceutical • Solace Nutrition • Vitaflo
!thanks…!!
• Organic Acidemia Association
• Fatty Acid Oxidation Support Group
• The Damian Fund • New England Genetics
Collaborative (NEGC)
© 2016 Genetic Metabolic Center for Education
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• Medical advisory board of 18 biochemical geneticists, genetic counselors, nurse practitioners, and metabolic dietitians
• Business management board of 8 senior executives and entrepreneurs
• Executive oversight committee of 6 senior executives and entrepreneurs
!Advisors!!
© 2016 Genetic Metabolic Center for Education
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• To ensure that patients with inborn errors of metabolism (IEMs) are identified, diagnosed and treated.
Vision
© 2016 Genetic Metabolic Center for Education
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• To educate and enable healthcare professionals worldwide in order to improve health care for children and adults with genetic metabolic disease.
Mission
© 2016 Genetic Metabolic Center for Education
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• To educate and enable healthcare professionals worldwide in order to improve health care for children and adults with genetic metabolic disease.
Mission
© 2016 Genetic Metabolic Center for Education
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The Metabolic Community
The Patients and Families
© 2016 Genetic Metabolic Center for Education
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The Metabolic Community
The Patients and Families
Treating Physicians
© 2016 Genetic Metabolic Center for Education
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Focus on Treating Physicians
• US shortage of metabolic expertise: – Clinics managing metabolic patients – Newborn screening follow-up – US military bases (remote) – Adult patients lost to follow-up
• Global shortage of metabolic expertise
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• Consultation and Clinical Support Service
!Approach !!
© 2016 Genetic Metabolic Center for Education
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• Consultation and Clinical Support Service • Pairing a biochemical geneticist and
metabolic dietitian with local providers
!Approach !!
© 2016 Genetic Metabolic Center for Education
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• Consultation and Clinical Support Service • Pairing a biochemical geneticist and
metabolic dietitian with local providers • An “apprenticeship” model
!Approach !!
© 2016 Genetic Metabolic Center for Education
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• Consultation and Clinical Support Service • Pairing a biochemical geneticist and
metabolic dietitian with local providers • An “apprenticeship” model that includes
education • This is not traditional “telemedicine” but a
peer-to-peer telehealth outreach
!Approach !!
© 2016 Genetic Metabolic Center for Education
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INTERSTATE MEDICAL LICENSURE COMPACT Legislative Status, 2015
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The Metabolic Community
The Patients and Families
Specialists & trainees
© 2016 Genetic Metabolic Center for Education
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Focus on Specialists and Trainees
• Education about metabolic disease is inadequate at all levels
• Specialists need to participate more in IEM diagnosis and management
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• Specialty-focused and -relevant
!Approach to Education !!
© 2016 Genetic Metabolic Center for Education
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Neonatology Pediatric Intensive Care Pediatric Neurology Pediatric Emergency Medicine Genetics Pediatric Gastroenterology Pediatric Nephrology Pediatric Psychiatry/Developmental Pediatrics General Pediatrics Pediatric Cardiology Pediatric Endocrinology Pediatric Otolaryngology Pediatric Rheumatology Pediatric Ophthalmology Pediatric Hematology Pediatric Pathology
Adult Outreach Begins…
2016 2017 2018 2019 2020
GMCE: SPECIALTY OUTREACH
© 2016 Genetic Metabolic Center for Education
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• Specialty-focused and -relevant • Symptom-based
!Approach to Education !!
© 2016 Genetic Metabolic Center for Education
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PEDIATRIC GI Metabolic Seminars
Examples…
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• Specialty-focused and -relevant • Symptom-based • Case-oriented • Clinical and practical
!Approach to Education !!
© 2016 Genetic Metabolic Center for Education
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• Specialty-focused and -relevant • Symptom-based • Case-oriented • Clinical and practical • Treatable disorders are prioritized
!Approach to Education !!
© 2016 Genetic Metabolic Center for Education
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• Specialty-focused and -relevant • Symptom-based • Case-oriented • Clinical and practical • Treatable disorders are prioritized • Interactive
!Approach to Education !!
© 2016 Genetic Metabolic Center for Education
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For practicing physicians - • Conferences
!Approach !!
© 2016 Genetic Metabolic Center for Education
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For practicing physicians - • Conferences
!Approach !
© 2016 Genetic Metabolic Center for Education
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Metabolic Approach to Symptoms in the Newborn
Topics Pre-evaluation % Correct
Post-Evaluation % Correct
Percent Improvement
Blood gas interpretation 29% 77% 48%
Metabolic testing 52% 67% 15% Management of a metabolic crisis 48% 60% 13%
Hypoglycemia and fasting intolerance 36% 63% 27%
ACMG ACT sheets for newborn screening 26% 67% 41%
Disorders with metabolic ketoacidosis and high ammonia 33% 91% 57%
Testing for causes of hypoglycemia 60% 65% 6%
Hyperbilirubinemia and metabolic liver disease 67% 91% 24%
Hypotonia in disorders of intoxication 14% 53% 39%
Management of a metabolic crisis 48% 93% 45% Newborn screening 40% 67% 27% Fatty acid oxidation defects 62% 84% 22%
© 2016 Genetic Metabolic Center for Education
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81%
7%
12%
Are you considering any changes to your prac7ce as a result of par7cipa7ng in this symposium?
Yes
No
NA
Metabolic Approach to Symptoms in the Newborn
© 2016 Genetic Metabolic Center for Education
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98%
2%
Would you recommend this symposium to a colleague?
Yes
No
Metabolic Approach to Symptoms in the Newborn
© 2016 Genetic Metabolic Center for Education
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For trainees - • Online training modules
!Approach !!
© 2016 Genetic Metabolic Center for Education
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Non-metabolic clinicians
• Knowledge about metabolic disease is included in the training curriculum of: • Pediatric neurology • Pediatric gastroenterology • Neonatology • Developmental pediatrics • Pediatric ER/critical medicine • General pediatrics m
202
NUMBER OF US TRAINING PROGRAMS
(2013)
74 58 96
51 133 202
Excludes US osteopathic programs
© 2016 Genetic Metabolic Center for Education
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For trainees - • Online training modules:
– Symptom-based workshops (“Lecture Hall”) – Patient presentations (“Clinic”) – Relevant references (“Library”) – Self-assessment (“Examination Hall”)
!Approach !!
© 2016 Genetic Metabolic Center for Education
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For trainees and students - • Online metabolic electives
!Approach !!
© 2016 Genetic Metabolic Center for Education
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For trainees and students - • Online metabolic electives
!Approach !!
© 2016 Genetic Metabolic Center for Education
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For trainees and students - • Online metabolic electives
!Approach !!
© 2016 Genetic Metabolic Center for Education
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For trainees and students - • Online metabolic electives
!Approach !!
© 2016 Genetic Metabolic Center for Education
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For trainees and students - • Online metabolic electives
!Approach !!
© 2016 Genetic Metabolic Center for Education
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For trainees and students - • Online metabolic electives
!Approach !!
© 2016 Genetic Metabolic Center for Education
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For trainees and students - • Online metabolic electives
!Approach !!
© 2016 Genetic Metabolic Center for Education
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Goal – Endorsement by specialty societies so that all trainees are encouraged to learn about metabolic disease
!Approach !!
© 2016 Genetic Metabolic Center for Education
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Courtesy of Jean-Marie Saudubray Introducing
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Courtesy of Jean-Marie Saudubray
• World-renowned metabolic geneticist in Europe
• Co-director of NAMA
• A “metabolic treasure”
• Has developed dozens of clinically-based algorithms and diagnostic approaches, patient-tested during his career
• Permits these to be used by GMCE
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© 2008-2015 Society for Inherited Metabolic Disorders www.simd.org
CAVA
Neonatal hyperammonemia
NAGS D CPS D CAVA
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Courtesy of Jean-Marie Saudubray
“Never miss a treatable disease!”
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The Metabolic Community
The Patients and Families
Formula/ food
companies
Pharma
Insurance companies
© 2016 Genetic Metabolic Center for Education
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Focus on Industry
• … and GMCE share a common mission • Patient identification through physician
education • Need in Industry for education to
understand better the disease and its impact on patients and families
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• “Never-Miss-A-Treatable-Disease” brochure line – Symptom-based information vs disease-
based information
!Approach !!
© 2016 Genetic Metabolic Center for Education
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Industry
Hurler syndrome Hunter syndrome
Maroteaux-Lamy syndrome
© 2016 Genetic Metabolic Center for Education
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• “Never-Miss-A-Treatable-Disease” brochure line
• Training seminars for officers and employees of Industry
!Approach !!
© 2016 Genetic Metabolic Center for Education © 2016 Genetic Metabolic Center for Education
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• “Never-Miss-A-Treatable-Disease” brochure line
• Training seminars for officers and employees of Industry
• Access to experts for Research and Development
!Approach !!
© 2016 Genetic Metabolic Center for Education
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The Metabolic Community
The Patients and Families
Disease Foundations
© 2016 Genetic Metabolic Center for Education
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Focus on Disease Foundations
• ….and GMCE share a common mission • Seek increased awareness about their
disease(s) which supports diagnosis, advocacy, research and treatment development
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• Unprecedented promotion of awareness: – Practicing MDs, trainees, students – Key specialist targets
!Approach !!
© 2016 Genetic Metabolic Center for Education
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!Approach !!
• Collaboration to develop a library of Patient Presentations, and a corresponding Speakers Bureau
• The “Damian Project”
Damian
pyruvate dehydrogenase def’y
© 2016 Genetic Metabolic Center for Education
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• “Damian Project” to be included in: – Live conferences – eLearning modules – Online electives – Resource for medical schools
!Approach !!
© 2016 Genetic Metabolic Center for Education
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The Metabolic Community
The Patients and Families
Patient Advocacy
© 2016 Genetic Metabolic Center for Education
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Focus on Patient Advocacy Organizations
• ….and GMCE share a common mission • Need for increased collaboration with
disease foundations, government, and Industry
• NORD, Genetic Alliance, Global Genes, CORD
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• Opportunities to strengthen collaboration between disease foundations, patient communities, government, and Industry
!Approach !!
© 2016 Genetic Metabolic Center for Education
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The Metabolic Community
The Patients and Families
Global Initiatives
© 2016 Genetic Metabolic Center for Education
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Focus on Global Initiatives
• Increasing recognition of metabolic medicine
• Newborn screening initiation and expansion
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• Establishment of a “Developing World Tier” of metabolic medicine
!Approach !!
© 2016 Genetic Metabolic Center for Education
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• Establishment of a “Developing World Tier” of metabolic medicine – Develop easy-to-understand, unambiguous
protocols for diagnosis and management
!Approach !!
© 2016 Genetic Metabolic Center for Education
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• Establishment of a “Developing World Tier” of metabolic medicine – Develop easy-to-understand, unambiguous
protocols for diagnosis and management – Utilize cheaper laboratory technologies
!Approach !!
© 2016 Genetic Metabolic Center for Education
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© 2008-2015 Society for Inherited Metabolic Disorders www.simd.org
CAVA
Neonatal hyperammonemia
NAGS D CPS D CAVA
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HYPERAMMONEMIA PRIMARY METABOLIC ACIDOSIS with
INCREASED ANION GAP ?
PRESENT: Check ketones
ABSENT: Check LFTs
HIGH LOW ABNORMAL NORMAL/NEAR NL
Organic acidemias
Fatty acid oxidation defects
Liver failure Urea cycle defect
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The Metabolic Community
The Patients and Families
Who else?
© 2016 Genetic Metabolic Center for Education
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• Metabolic medicine: – cannot remain just within the realm of the
“centers of excellence”
A New Metabolism Era!
© 2016 Genetic Metabolic Center for Education
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• Metabolic medicine: – cannot remain just within the realm of the
“centers of excellence” – must be more “accessible” to community
stakeholders
A New Metabolism Era!
© 2016 Genetic Metabolic Center for Education
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• Metabolic medicine: – cannot remain just within the realm of the
“centers of excellence” – must be more “accessible” to community
stakeholders – must be relevant globally
A New Metabolism Era!
© 2016 Genetic Metabolic Center for Education
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• Metabolic medicine: – cannot remain just within the realm of the
“centers of excellence” – must be more “accessible” to community
stakeholders – must be relevant globally – must look attractive and actively recruit
A New Metabolism Era!
© 2016 Genetic Metabolic Center for Education
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CARE
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CARE SHARE
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CARE SHARE SNARE
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Talk to us
www.geneticmetabolic.com