Metabolic Medicine: At a crossroads. Mark S. Korson, MD Tufts Medical Center Boston, MA

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1 Metabolic Medicine: At a crossroads Mark S. Korson, MD Tufts Medical Center Boston, MA

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3 A Promising Future! New diagnostic technologies are being developed Newborn screening programs are expanding to include new disorders New and innovative therapies are being developed There is a gradual rise in metabolic awareness

4 An Evolving Crisis in care The # of diagnosed metabolic patients is rising The amount of work/patient is also rising: therapies become more complex insurance coverage becomes more of a challenge community and support services shrink primary doctors are playing less of a role in complex care

5 An Evolving Crisis in care The # of diagnosed metabolic patients is rising The amount of work/patient is also rising But The # of metabolic clinicians is not increasing A large # of metabolic clinicians will retire within the next 5-10 years

6 An Evolving Crisis in care Most metabolic physicians are pediatricians but metabolism is no longer just a pediatric subspecialty Adult medicine trainees have little/no metabolic experience Transition from pediatric adult health care is a major issue

7 An Evolving Crisis in education Teaching about metabolic disorders at all levels of medicine is inadequate Exposure by students and residents to the field of metabolic disorders is very sporadic Awareness about biochemical genetics as a career choice is low

8 An Evolving Crisis! In workload In numbers of metabolic personnel (pediatrics and adult medicine) In numbers of metabolic trainees In metabolic disease awareness and education Threatens the care of metabolic patients Threatens the wellbeing of metabolic professionals

9 Current Approaches - 1 Increase the # of metabolic clinicians: Funding from industry to help support fellowship training in biochemical genetics North American Metabolic Academy

10 Current Approaches - 1 Increase the # of metabolic clinicians: North American Metabolic Academy annual event, beginning in trained per year, this year 45 targets Genetics and Metabolism trainees to provide a better foundation in metabolic disease

11 Current Approaches - 2 Educate non-geneticists in metabolic diagnosis and management Educate medical students, interns and residents at teaching hospitals

12 Current Approaches- 2 Metabolic Outreach Service

13 Current Approaches- 2 Occurred at Boston Medical Center (Boston University Medical School affiliate) Nov/03 - Jul/04 Pilot supported by Genzyme Therapeutics

14 Date Event Topic # Attendees Nov 2003 Pedi Resident Rds Hypoglycemia 15 Dec 2003 Grand Rounds Hyperammonemia 60 Dec 2003 Case of the Wk Patient Forum: urea cycle disorder Feb 2004 Case of the Wk Unknown case: Hypoglycemia Mar 2004 Pedi/Adult ER Rds Lethargy in the ER 35 Mar 2004 Pedi Morning Rds Unknown case: Vomiting with lethargy Mar 2004 Resident Rds Coarse-appearing facies Apr 2004 Pedi Morning Rds Unknown case: Neonatal seizures Apr 2004 NICU Rounds Metabolic disease in infancy 21 12

15 Date Event Topic # Attendees May 2004 Case of the Wk Gaucher disease 42 May 2004 Pedi Morning Rds Gaucher disease, mitochondrial disease Jun 2004 Pedi Morning Rds General symptoms 22 Jun 2004 NICU Rounds Metabolic liver disease, Part I Jun 2004 NICU Rounds Metabolic liver disease, Part II Jun 2004 Pedi Morning Rds Neonatal liver disease 23 July 2004 Case of the Wk Mitochondrial disease 55 July 2004 Pedi Morning Rds Neurodegenerative disease in newborns July 2004 Cardiology Rds Metabolic heart disease

16 Date Event Topic # Attendees May 2004 Case of the Wk Gaucher disease 42 May 2004 Pedi Morning Rds In the audience: Gaucher disease, mitochondrial disease Jun 2004 Pedi Morning Rds General symptoms 22 - Medical students Jun 2004 NICU Rounds Metabolic liver disease, - Interns and residents Part I - Attending physicians (generalists and subspecialists) Jun 2004 NICU Rounds Metabolic liver disease, Part II Jun 2004 Pedi Morning Rds Neonatal liver disease 23 July 2004 Case of the Wk Mitochondrial disease 55 July 2004 Pedi Morning Rds Neurodegenerative disease in neonates July 2004 Cardiology Rds Metabolic heart disease

17 Metabolic Outreach Service Began in November 2007 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

18 Metabolic Outreach Service All major teaching hospitals Each has a Genetic Service The Genetic Services do not feel comfortable managing metabolic patients Maimonides Medical Center Vermont Children s Hospital Dartmouth- Hitchcock Medical Center Baystate Medical Center Eastern Maine Medical Center Boston Med Ctr

19 Metabolic Outreach Service - Aims 1. Provide a sustained educational outreach to medical centers without an on-site metabolic specialist 3. Cultivate a local metabolic expertise 5. Develop long-distance mechanisms for aiding in diagnosis and treatment 7. Attract trainees to a career in biochemical genetics

20 Metabolic Outreach Service - Aims 1. Provide a sustained educational outreach to medical centers without an on-site metabolic specialist Educational workshops 3. Cultivate a local metabolic expertise Laboratory workshops 5. Develop long-distance mechanisms for aiding in diagnosis Patient Forums and treatment 7. Attract trainees to a career in biochemical genetics

21 Case # 6 A 2 ½ year old boy develops cough and cold symptoms two days prior to admission. His pediatrician diagnoses a pharyngitis; the patient takes only fluids but smaller volumes than usual. On the morning of the third day, he is pale and difficult to rouse. He is rushed to the ER and has a seizure in the car. His blood glucose measures 25 mg/dl. Blood gases ph=7.29, pco 2 =31, HCO 3 =15. Electrolytes measure Na=131, K=4.4, Cl=99. His urinalysis shows - ph=5.0, no glucose or protein, and 1+ ketones.

22 Case #6: Analysis Blood gases: primary metabolic acidosis, secondary respiratory alkalosis Anion gap = 17 Ammonia = not known Glucose = low Ketones = inappropriately low

23 HYPOGLYCEMIA Check urine ketones APPROPRIATE KETONURIA INAPPROPRIATELY LOW KETONURIA Ketotic hypoglycemia Stress Metabolic disease Endocrinopathies High Insulin State Insulin tumor Infant of DM mother Beckwith-Wiedemann syndrome Iatrogenic Low Insulin State Fatty acid oxid n defects GSD type I

24 Case #6: Analysis

25 Patient Forums Brief introductory overview of the disease from a medical perspective Patients and parents speak and share: Their diagnostic journey Their perspectives on therapy The day-to-day challenges they face Patients don t talk about facts; they tell a story and people remember stories.

26 Patient Forums This aspect of the Outreach Service is called the Patient-As-Teacher Project

27 Patient Forums Speaker s Registry = 60 patient/parent teachers, representing 25 different diagnoses Most are repeat speakers

28 Patient Forums The audience remembers! They generate interest

29 Case Reviews On-site Long distance This is NOT a satellite clinic it s about helping clinicians work through their own cases

30 As of June 2010: # of educational sessions = 136 # of patient forums = 21 (13 disorders) # of case reviews = 299

31 150 LECTURES CASE REVIEWS PATIENT FORUMS Oct/2007 Dec2008 Dec2009 CUMULATIVE MOS DATA I Jun2010

32 As of June 2010: TOTAL # participants in MOS = 5174

33 6000 # PARTICIPANTS IN ALL MOS ACTIVITIES Oct/2007 Dec2008 Dec2009 CUMULATIVE MOS DATA II Jun2010

34 Evaluation of MOS Attendance Evaluations Audience response system Lab test ordering New interest in metabolic disease Clinical care

35 Evaluation of MOS Evaluations Achieved stated goals = 4.8 Topic relevant = 4.03 Presentation effective = 4.65 Audience participation = 4.52 Overall satisfaction = 4.8

36 Evaluation of MOS Evaluations Will this information change your practice? YES = 454 NO = 51

37 Evaluation of MOS ARS Audience response system A test of short-term learning

38 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 Significance of high ammonia ER mgmt of metabolic crisis Fatty acid oxidation testing Triggers for metabolic crisis Organic acidemias testing 3 45 Metabolic disease + sudden death Metabolic physiology Hypoglycemia Fatty acid oxidation defects Metabolic disease testing Metabolic disease testing # of RESPONDENTS 33

39 Maimonides Medical Center Lecture A case of hepatosplenomegaly March 11, 2010 TOPIC PRE (% correct answers) POST (% correct answers) Age of presentation of Gaucher Bone pain in Gaucher disease Ethnic predilection in Gaucher Gaucher sub-types Gaucher type I phenotype Testing for Gaucher Organ screening in Gaucher Gaucher therapy # RESPONDENTS 40

40 Evaluation of MOS Lab Test Ordering AMMONIA Baystate Dartmouth Vermont Maimonides Onset of MOS

41 Evaluation of MOS Lab Test Ordering BLOOD AMINO ACIDS Baystate Dartmouth Vermont Maimonides Onset of MOS

42 Evaluation of MOS Lab Test Ordering URINE ORGANIC ACIDS Baystate Dartmouth Vermont Maimonides Onset of MOS

43 Evaluation of MOS New interest Electives: 2 pediatric residents 3 medical students Projects: 1 genetic counselor 3 medical student projects

44 Evaluation of MOS Clinical care Increasing the role of non-metabolic centers in metabolic care: 1. Newborn with a urea cycle disorder in Burlington, VT 2. Developing a metabolic supervision service Baystate Medical Center Vermont Children s Hospital Eastern Maine Medical Center

45 What have I learned? People like simple, clinical, practical, interactive workshops that are symptom-based, not diseasebased

46 What have I learned? People like simple, clinical, practical, interactive workshops that are symptom-based, not diseasebased Repetition is a powerful teaching tool

47 METABOLIC APPROACH: Metabolic Acidosis, Hyperammonemia, Hypoglycemia Mark Korson, MD Metabolism Service

48 The Dietary History: A Metabolic Clue Mark S. Korson, MD

49 METABOLIC EMERGENCIES Mark S. Korson, MD

50 WHEN TO THINK METABOLIC WHEN YOU RE DOING GI Mark S. Korson, MD

51 HYPERAMMONEMIA: A Metabolic Approach Mark S. Korson, MD

52 NEWBORN SCREENING: The Largest and Most Successful Genetic Screening Program in the World Mark S. Korson, MD

53 Pregnancy Affecting Metabolic Disease and Metabolic Disease Affecting Pregnancy Mark S. Korson, MD

54 PSYCHIATRIC SYMPTOMS IN METABOLIC DISEASE Mark S. Korson, MD

55 Metabolic Causes of Stroke Mark S. Korson, MD

56 The Vomiting Child: When to think metabolic Mark S. Korson, MD

57 Metabolic Disease in Adult Medicine: What (and who) are we missing? Mark S. Korson, MD

58 BOARD REVIEW QUESTIONS: for Pediatrics Mark S. Korson, MD

59 What have I learned? People like simple, clinical, practical, interactive workshops that are symptom-based, not diseasebased Repetition is a powerful teaching tool Visiting the medical centers educates medical students & house-staff, less so attending physicians

60 Other subspecialties & metabolic disease Survey at NeoPREP NeoPREP = annual review course for newborn medicine specialists 185 respondents 85% would attend a 1-day course of key metabolic-oriented lectures pertaining to neonatology

61 Example PEDIATRIC NEUROLOGY Metabolic Seminars

62 Example PEDIATRIC GI Metabolic Seminars

63 What have I learned? People like simple, clinical, practical, interactive workshops that are symptom-based, not diseasebased Repetition is a powerful teaching tool Visiting the medical centers educates medical students & house-staff, less so attending MDs Patients and parents are powerful teachers Teaching medical students early in their training (1 st year!) may be a way to get them interested in metabolic medicine

64 Patient-As-Teacher Project Expand the Speakers Bureau Expand the number of diseases represented in the Speakers Bureau Expand the number of speaking opportunities

65 Patient-As-Teacher Project CURRENTLY - Tufts Medical School, Boston PLANNED for Tufts Medical School, Boston Boston University Medical School Dartmouth Medical School Univ of VT Medical School Downstate Medical School, NY

66 Patient-As-Teacher Project CURRENTLY - Tufts Medical School, Boston PLANNED for Tufts Medical School, Boston Boston University Medical School PROMOTE ELECTIVES AND PROJECTS Dartmouth Medical School Univ of VT Medical School Downstate Medical School, NY

67 P stands for PATIENTS PARENTS POWER

68 Patient Power is not just desirable, it is essential for the future and wellbeing of this subspecialty.

69 Patients = Power 1. Metabolic clinics cannot do alone all that needs to be done. 2. Clinicians need the patient perspective. 3. Patients need to help shape health policy. 4. Patients can promote communication between competitive researchers.

70 Parent/Patient Support Organizations Support Communication Education Awareness

71 Parent/Patient Support Organizations Activist organizations, pushing the field forward Missions: Fundraising Research grants Advocacy: government insurance pharmaceutical industry Set public health policy newborn screening

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73 POWER PROJECTS RESEARCH: 1. Goals: find better diagnostic tools find better therapies find a cure 2. Disease foundation grants supplement the diminishing availability of research funding from traditional sources

74 POWER PROJECTS ADVOCACY: Goals: develop support mechanisms within the patient community if patients can advocate for themselves and each other, it eases some of the burden from the clinics

75 POWER PROJECTS POLICY/LAW: 1. Goals: raise awareness about metabolic disease develop legislation and policy favorable to metabolic diagnosis and management 2. Approach your district representative. Government listens to voters more than doctors! 3. Go public on key issues!

76 POWER PROJECTS TEACHING: 1. Goals: raise awareness about metabolic disease attract more trainees into this area 2. Approach your local medical school or teaching hospital, speak in a Speaker s Bureau, or speak on behalf of a disease foundation 3. Teach the intern taking care of you/your child 4. Support teaching initiatives Be patient!

77 POWER PROJECTS FUNDRAISING: 1. Goals: support your local (money-losing) clinic support the quality of care you receive ask the clinic what they need to serve you better 2. Don t only support innovative ideas or the future cure. Also support the care that helps patients today.

78 P stands for PATIENTS PARENTS POWER PARTNERSHIP

79 Don t just be my patient. Be my partner in care and teaching.

80 THANK YOU FOR LISTENING! Mark Korson, MD Tufts Medical Center, Boston 800 Washington Street Boston, MA