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Pediatric Genetics: What the Primary Provider Needs to Know

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Pediatric Genetics: What the Primary Provider Needs to Know

  1. 1. Pediatric Genetics What the Primary Provider Needs to Know Leah Burke, MD University of Vermont Mark Korson, MD VMP Genetics, LLC
  2. 2. Get the Most Out of Your Experience  Use the Q&A Button to submit questions during today’s session  Recording will be sent by email  For further information, contact WILA@chc1.com
  3. 3. Weitzman Institute Learning Academy Pediatric Genetics The NERGN project is supported by the Health Resources and Services Administration (HRSA) of the U.S. Department of Health and Human Services (HHS) under grant number UH7MC30778; New England Regional Genetics Network; total award amount: 1.5 million; 100% from governmental sources. This information or content and conclusions are those of the author and should not be construed as the official position or policy of, nor should any endorsements be inferred by HRSA, HHS or the U.S. Government.
  4. 4. Disclosures We do not have anything to disclose.
  5. 5. CHCI Profile:  Founding year: 1972  Hubs/Locations: 15/210  Patients per year: 100,000
  6. 6. Leah W. Burke, MD Mark Korson, MD Today’s Presenters
  7. 7. LEARNING OBJECTIVES 1. Identify the characteristics of a patient’s medical condition that could raise concerns about a genetic or metabolic disease 2. Describe the benefits/problems with a “clinical diagnosis” 3. List what a PCP can do to enhance the efficacy of a referral to a geneticist
  8. 8. • Multi-system disease • Seemingly unconnected symptoms • Progressive course to the disease • Episodic clinical or biochemical decompensation • “Idiopathic” or descriptive diagnoses (caution) WHEN TO “THINK GENETIC/METABOLIC?”
  9. 9. • 6-12 months recurrent ear infections • 8 months – loud breathing  snoring • 9 months – enlarged liver • 12 months – T&A, myringotomy tubes • 16 months – inguinal hernia repair SEEMINGLY UNCONNECTED SYMPTOMS: A CASE Courtesy of SIMD-NAMA/
  10. 10. • 6-12 months recurrent ear infections • 8 months – loud breathing  snoring • 9 months – enlarged liver • 12 months – T&A, myringotomy tubes • 16 months – inguinal hernia repair • 17 months – diffuse “corneal haze” SEEMINGLY UNCONNECTED SYMPTOMS: A CASE Courtesy of SIMD-NAMA/
  11. 11. • 6-12 months recurrent ear infections • 8 months – loud breathing  snoring • 9 months – enlarged liver • 12 months – T&A, myringotomy tubes • 16 months – inguinal hernia repair • 17 months – diffuse “corneal haze” • 17 months – spinal protruberance SEEMINGLY UNCONNECTED SYMPTOMS: A CASE https://www.orthobullets.com/pediatrics/4101/
  12. 12. This phenotype is most suggestive of which ONE of the following conditions? A. Glycogen storage disease type I B. Hurler syndrome (MPS type I) C. Galactosemia D. Tyrosinemia E. Morquio syndrome (MPS type IV) QUESTION
  13. 13. This phenotype is most suggestive of which ONE of the following conditions? A. Glycogen storage disease type I B. Hurler syndrome (MPS type I) C. Galactosemia D. Tyrosinemia E. Morquio syndrome (MPS type IV) QUESTION https://www.orthobullets.com/pediatrics/4101/
  14. 14. PROGRESSIVE DISEASE COURSE DQ AGE Normal development
  15. 15. PROGRESSIVE DISEASE COURSE DQ AGE Abnormal development
  16. 16. • Recurrent vomiting, dehydration, and metabolic acidosis, associated with infections. Family members fare better • Recurrent muscle pain with exercising or in heat/humidity • Recurrent muscle pain with exercising  myoglobinuria • Repeat encephalopathy – lethargy, confusion, disorientation, delirium • Recurring abdominal pain EPISODIC CLINICAL/BIOCHEMICAL DECOMPENSATION
  17. 17. • Recurrent vomiting, dehydration, and metabolic acidosis, associated with infections. Family members fare better • Recurrent muscle pain with exercising or in heat/humidity • Recurrent muscle pain with exercising  myoglobinuria • Repeat encephalopathy – lethargy, confusion, disorientation, delirium • Recurring abdominal pain ORGANIC ACIDEMIA EPISODIC DECOMPENSATION
  18. 18. • Recurrent vomiting, dehydration, and metabolic acidosis, associated with infections. Family members fare better • Recurrent muscle pain with exercising or in heat/humidity • Recurrent muscle pain with exercising  myoglobinuria • Repeat encephalopathy – lethargy, confusion, disorientation, delirium • Recurring abdominal pain EPISODIC DECOMPENSATION FABRY DISEASE ORGANIC ACIDEMIA
  19. 19. • Recurrent vomiting, dehydration, and metabolic acidosis, associated with infections. Family members fare better • Recurrent muscle pain with exercising or in heat/humidity • Recurrent muscle pain with exercising  myoglobinuria • Repeat encephalopathy – lethargy, confusion, disorientation, delirium • Recurring abdominal pain EPISODIC DECOMPENSATION FABRY DISEASE ORGANIC ACIDEMIA FATTY ACID OXIDATION DEFECT
  20. 20. • Recurrent vomiting, dehydration, and metabolic acidosis, associated with infections. Family members fare better • Recurrent muscle pain with exercising or in heat/humidity • Recurrent muscle pain with exercising  myoglobinuria • Repeat encephalopathy – lethargy, confusion, disorientation, delirium • Recurring abdominal pain EPISODIC DECOMPENSATION FABRY DISEASE ORGANIC ACIDEMIA FATTY ACID OXIDATION DEFECT UREA CYCLE DISORDER
  21. 21. • Recurrent vomiting, dehydration, and metabolic acidosis, associated with infections. Family members fare better • Recurrent muscle pain with exercising or in heat/humidity • Recurrent muscle pain with exercising  myoglobinuria • Repeat encephalopathy – lethargy, confusion, disorientation, delirium • Recurring abdominal pain EPISODIC DECOMPENSATION FABRY DISEASE ORGANIC ACIDEMIA FATTY ACID OXIDATION DEFECT ACUTE INTERMITTENT PORPHYRIA UREA CYCLE DISORDER
  22. 22. • A story about “idiopathic cardiomyopathy” • Descriptive diagnoses are not specific diagnoses (spastic paraparesis, leukodystrophy, stroke) • Some diagnoses are a common phenotype with several different causes (e.g., autism) CAREFUL WITH IDIOPATHIC/DESCRIPTIVE DIAGNOSES
  23. 23. • Sometimes we overlook ”red flags” • Sometimes we come to a decision too quickly and don’t give up that opinion easily • We may be embarrassed when we don’t know something, and it can be embarrassing to ask… CHALLENGING HUMAN BEHAVIORS!
  24. 24. “RED FLAGS” A 2 ½ year old boy develops a cough and cold symptoms. His PCP diagnoses a pharyngitis; the patient takes only smaller volumes than usual. On the third day, he is pale and difficult to rouse. He is rushed to the ED and has a seizure in the car. His blood glucose measures 25 mg/dL. Blood gases – pH=7.29, pCO2=31, HCO3=15. Electrolytes measure Na=131, K=4.4, Cl=99. His urinalysis shows - pH=5.0, no glucose or protein, and 1+ ketones.
  25. 25. “RED FLAGS” - QUESTION Which ONE of the following choices regarding the patient’s presentation is the most diagnostically helpful? A. Hypoglycemia B. Metabolic acidosis C. Hypoglycemia with seizure D. Hypoglycemia with 1+ urine ketones E. Hypoglycemia, hyponatremia, with seizures
  26. 26. “RED FLAGS” - QUESTION Which ONE of the following choices regarding the patient’s presentation is the most diagnostically helpful? A. Hypoglycemia B. Metabolic acidosis C. Hypoglycemia with seizure D. Hypoglycemia with 1+ urine ketones E. Hypoglycemia, hyponatremia, with seizures
  27. 27. HYPOKETOTIC HYPOGLYCEMIA
  28. 28. HYPOKETOTIC HYPOGLYCEMIA FAT FATTY ACIDS KETONES HIGH Insulin State
  29. 29. HYPOKETOTIC HYPOGLYCEMIA HIGH Insulin State • Insulin tumor • Infant of DM mother • Beckwith-Wiedemann syndrome • Iatrogenic
  30. 30. HYPOKETOTIC HYPOGLYCEMIA FAT FATTY ACIDS KETONES LOW Insulin State
  31. 31. HYPOKETOTIC HYPOGLYCEMIA LOW Insulin State • Fatty acid oxidation defect • Glycogen storage disease type I
  32. 32. • Aketosis or hypoketosis is always an abnormal response to hypoglycemia (or even very prolonged fasting) • Exception – newborns HYPOGLYCEMIA
  33. 33. “THE EARLY DECISION” A male is the 5th child of non-consanguineous parents following a normal pregnancy and delivery. Within 12 hours, he developed respiratory distress and lethargy, requiring intubation and ventilation. Blood gases showed: pH=7.21, pCO2=10, HCO3=4. Electrolytes: Na=137, K=4.9, Cl=105, measured HCO3=4. Glucose=44 mg/dL. The patient was dehydrated; lactate measured 21 mmol/L (NL<2.2) but persisted despite rehydration. Ammonia=105 μmol/L. Urinalysis: ketones=3+.
  34. 34. “THE EARLY DECISION” - QUESTION The most likely reason for the high lactic acid level in this patient is dehydration leading to poor perfusion? A. True B. False
  35. 35. “THE EARLY DECISION” - QUESTION The most likely reason for the high lactic acid level in this patient is dehydration leading to poor perfusion? A. True B. False
  36. 36. “THE EARLY DECISION” A male is the 5th child of non-consanguineous parents following a normal pregnancy and delivery. Within 12 hours, he developed respiratory distress and lethargy, requiring intubation and ventilation. Blood gases showed: pH=7.21, pCO2=10, HCO3=4. Electrolytes: Na=137, K=4.9, Cl=105, measured HCO3=4. Glucose=44 mg/dL. The patient was dehydrated; lactate measured 21 mmol/L (NL<2.2) but persisted despite rehydration. Ammonia=105 μmol/L. Urinalysis: ketones=3+.
  37. 37. WE CAN BE EMBARRASSED WHEN WE DON’T KNOW…
  38. 38. • Genetic disorders are rare • There are >7000 of them • Genetic and metabolic disease is not well taught in medical school and post-graduate training programs • Genetic awareness is better in pediatrics than in adult medicine WHY ARE GENETIC DIAGNOSES MISSED?
  39. 39. • A controversial diagnosis or one that is not easily proven • A variation of a known/provable diagnosis • Think the controversy around “Lyme disease” A “CLINICAL DIAGNOSIS”
  40. 40. • ”A neurological disorder caused by a non-progressive brain injury or malformation that occurs while the child’s brain is under development.” (cerebralpalsy.org) • A one-time injury to the brain  static lesion • This is more a description, less a diagnosis • We see the symptoms that derive from this (which may sometimes suggest progression) CEREBRAL PALSY
  41. 41. • Not one disease – 100s of disorders • Phenotypic heterogeneity with many phenocopies • DNA diagnosis: • Required to confirm a diagnosis • Only possible in 60-80% of cases MITOCHONDRIAL DISEASE
  42. 42. OTHER “CLINICAL” DIAGNOSES • Multiple sclerosis • Charcot-Marie-Tooth disease • Sudden infant death syndrome (SIDS) • And others….
  43. 43. • It can explain the patient’s pathophysiology  increases options for (symptomatic) therapy • It can help with care coordination and management • It can introduce opportunities for patient/family support WHY MAKE A “CLINICAL” DIAGNOSIS?
  44. 44. BUT… • It can inhibit thinking about the patient’s diagnosis  loss of a real diagnosis (and possible therapy) • It can make patients/families vulnerable to allegations of medical child abuse WHY MAKE A “CLINICAL” DIAGNOSIS?
  45. 45. What about when the families get testing on their own? 45
  46. 46. DIRECT-TO-CONSUMER (DTC) GENETIC TESTING • Advertised to the public • Individuals order and receive results directly from the company • Mail in cheek swab or saliva sample • Typically use SNP array to detect common SNPs in subset of genes • No requirement for health professional results interpretation or pre-test counseling 46
  47. 47. 48 Sample Report from 23 and Me
  48. 48. 49
  49. 49. 50
  50. 50. CASE OF PERSONAL GENETIC TESTING • 25 year old male • Sends his DNA to 23 and Me for analysis • Gets back the results 51
  51. 51. 52
  52. 52. • Takes the results to his primary care provider • His PCP orders a phenylalanine level –His level is 98 µmol/L (1.617 mg/dL) (NL=30-80 µmol/L) –He is sent to Genetics 53 CASE OF PERSONAL GENETIC TESTING
  53. 53. 54
  54. 54. • Individual possible psychological harm • Lack of professional counseling • Lacking data protection and opaque data protection policies • Lacking validity and clinical utility of test results 55 BMC Medical Ethics (2018) 19:56
  55. 55. COMMENTS ON THE DIAGNOSTIC JOURNEY • There can be many false turns and stops –Negative genetic testing in 1995 may not be negative in 2020 –Genetic testing in 2020 may not be negative in 2022 • It is taxing for the individual and the family, both emotionally and financially • When an answer is found, it can provide guidance and a path through the medical specialists 56
  56. 56. THE LONG AND WINDING ROAD • 53 year old man comes for genetic testing because of his many symptoms, some of which he has had for all of his life 57
  57. 57. HEALTH HISTORY • Formula intolerance as a baby with liquid stools • Underweight until 17 years old • Juvenile-onset diabetes diagnosed at age 17 • Frequent rashes and allergies • Diagnosed with Hashimoto’s thyroiditis • Psoriatic arthritis • Bowed legs • Fatigue • Early hair loss • Hypogonadism and infertility 58
  58. 58. GENETIC TESTING PRIOR TO COUNSELING • Had MTHFR testing done because of his autoimmune thyroiditis –Has two pathogenic variants –C677T and A1298C 59
  59. 59. • “Do I have genetic defects causing my autoimmune diseases and affecting my mitochondria?” 60 HIS QUESTION FOR THE GENETICIST…
  60. 60. 61 5,10-METHYLENE TETRAHYDROFOLATE REDUCTASE (MTHFR) • MTHFR is a key regulatory enzyme in folate and homocysteine metabolism
  61. 61. 62 “Conclusions: MTHFR mutations are relatively frequent in the population (11%). Additional studies are needed to explain the association of MTHFR mutations with autoimmune thyroiditis, an increased prevalence of these mutations among the patients with autoimmune thyroid disease being observed.”
  62. 62. 63
  63. 63. • “Genetic Research Uncovers MTHFR Mutation & Antidote” www.methyl-life.com 65 MTHFR GENOTYPE AND O-T-C DIETARY SUPPLEMENTS
  64. 64. • Had a karyotype to rule out Klinefelter syndrome - normal • Considered ordering an Autoimmune Disorders Genetic Panel but was not covered by insurance • Did a Comprehensive Carrier Screening Panel instead 66 BACK TO THE CASE
  65. 65. • Found to carry two rare pathogenic intronic variants in CFTR (cystic fibrosis gene) • Subsequent sweat test was positive! 67 RESULTS
  66. 66. • CFTR could explain his infertility, gastrointestinal complaints, thyroid disease, and diabetes • May not explain everything but gave him a treatment plan • The rare CFTR variants would not have been picked up on cystic fibrosis screening, and he did not have significant lung disease! 68 COUNSELING
  67. 67. • With multiple medical complaints and progression over time, a Genetics evaluation may be helpful • Beware of testing for variants that are common and not proven to be the answer, despite the hype 69 LESSONS
  68. 68. So what about referrals for a genetics/metabolism evaluation? Acute versus non-acute? 70
  69. 69. • Acute referral  Clinic • Positive newborn screen for: • Spinal muscular atrophy (SMA) • Severe combined immunodeficiency (SCID) • Pompe disease • Facilitate the referral; don’t rely on “The System” REFERRALS FOR A GENETICS/METABOLISM EVALUATION
  70. 70. • Acute referral  Clinic/Emergency Department • Positive newborn screen for: • Urea cycle disorder • Organic acidemia • Call the parents +/- see the patient • Call Genetics/Metabolism Service  review and plan together REFERRALS FOR A GENETICS/METABOLISM EVALUATION • Fatty acid oxidation defect • Galactosemia
  71. 71. • Be suspicious • Characterize the symptoms, when possible • Identify a family history, if any • Collect past information • Call Genetics/Metabolism to discuss/ask questions NON-URGENT REFERRALS: GEN/METAB EVALUATION
  72. 72. Genetic/Metabolic • Chief complaint • Family History if available – Include 3 generations if available – Prefer in pedigree format if possible; if not designate how each person is related – Include developmental history – Do not limit to symptoms found in patient – Include causes of death particularly in early deaths – Include miscarriages and early infant deaths – Include consanguinity and ethnicity • Prenatal and neonatal history – Hospitalizations – Surgeries • Developmental history • Medications and allergies • Review of systems • Previous genetic or metabolic testing in patient or in family Metabolic Specific • History of current symptoms. For each, include: – Onset – Description – Progression • Past admissions, relevant to HPI • Past consultations • Past surgeries • Past laboratory testing – If episodic symptoms, include results from those times • Pertinent radiology studies • Pertinent pathology studies • Physical exam – Include changes in findings over time Genetic Specific • Physical findings – Height, weight and head circumference even in adults – Photographs of physical findings – Radiographs – Age at presentation of findings – Change in findings over time GENETIC/METABOLIC CONSULT INFORMATION
  73. 73. • Chief Complaint • Family History if available – Include 3 generations if available – Designate how each person is related – Include developmental history – Do not limit to symptoms found in patient – Include causes of death particularly in early deaths – Include miscarriages and early infant deaths – Include consanguinity and ethnicity • Medical History – Prenatal and neonatal history – Hospitalizations/Surgeries – Developmental history – Medications and allergies – Review of systems Include any genetic or metabolic testing already done WHAT CAN THE PCP PROVIDE FOR THE GEN/METAB VISIT?
  74. 74. • History of current symptoms. For each, include: – Onset – Description – Progression • Past hospitalizations or surgeries, relevant to HPI • Past consultations • Past laboratory testing – If episodic symptoms, include results from those times • Pertinent radiology studies • Pertinent pathology studies • Physical exam – Include changes in findings over time …SPECIFICALLY FOR THE METABOLISM CONSULT…
  75. 75. • Physical findings – Height, weight and head circumference even in adults – Photographs of physical findings – Radiographs – Age at presentation of findings – Change in findings over time • Remind family that family photographs can be helpful • Suggest that the family discuss family history with their family prior to the visit …SPECIFICALLY FOR THE GENETICS CONSULT…
  76. 76. Short stature • Karyotype if a girl to rule out Turner syndrome • Thyroid studies • Complete Blood Count • Complete metabolic panel • Consider IGF-1, IGFBP-3 INCLUDE COMPLETED LAB STUDIES FOR THE CONSULT
  77. 77. • Weitzman e-Consult form • NERGN (Ed Kloza): • Brochure • Online video (later in 2020) RESOURCES ABOUT REFERRALS https://www.negenetics.org/sites/www.negenetics.org/files/libraries/nergn/ GeneticsClinicBrochure_2019%20v1.pdf

Editor's Notes

  • PF
  • Kasey??
  • PF
  • I am going to talk a little about what happens when the families get testing on their own. More and more, I get calls from primary care providers seeking advice about the results of genetic testing that their patients are worried about.
  • This is what we call direct to consumer genetic testing. It is advertised directly to the public, initiated by the consumer or individual without any involvement of a medical or genetics professional and the results are sent directly back to the individual.
    The science for many is that they use a SNP array to detect common SNPS. What this means from a genetics point of view is that many only test for the most common variants in a gene.
    And there is often no requirement for pre or post test counseling, although many of the sites do offer link for telephone counseling.
  • This is the current 23 and ME site. The FDA lifted a previous ban and they are now able to provide some health information as well as ancestry, mostly for carrier status
  • Here is one of their sample reports. Testing for a variant that has an association with late-onset Alzheimers disease. Seems harmless, right?
  • The American Board of Internal Medicine began an initiative called Choosing Wisely in order to promote conversations between clinicians and patients by helping patients choose care that is:
    Supported by evidence
    Not duplicative of other tests or procedures already received
    Free from harm
    Truly necessary
    Beginning in 2012, national organizations representing medical specialists have asked their members to identify tests or procedures commonly used in their field whose necessity should be questioned and discussed. This call to action has resulted in specialty-specific lists of  “Things Providers and Patients Should Question.”
    This is the list from the American College of Medical Geneticists
  • You can see that APOE testing is on that list of don’ts. Their reasoning is that it is not an accurate predictor of Alzheimer disease.
  • So let’s talk about a case. This is a 25 year old male that has a number of medical complaints none of which fit into a particular condition. He decides to send his DNA into 23 and Me to get some answers.
  • This is a portion of his results. He sees that he has a “Variant Present” for Phenylketonuria or PKU. He becomes concerned and goes to the internet and thinks this could be his answer. He has always avoided meat and he thinks this might be due to having PKU.
  • He talks to his primary care provider who orders a phenylalanine level and it is read as elevated. Now let me take a moment here to say that, although his level is out of the range of normal, it is below the level at which we would normally do any treatment. He calls genetics for a genetic counseling appointment.
  • The genetic counselor calls 23 and Me and asks what the report means, Specifically, since PKU is a recessive condition, did they find one or two variants and what sort of variants did they find. The genetic counselor was told that 23 and Me could not make any diagnostic conclusions in medical conditions, and therefore did not report out how many variants were found. The genetic counselor decided that the best thing to do was to retest him in a clinical laboratory and he was found to have one pathogenic variant or mutation and was therefore a carrier. His symptoms were not due to PKU nor did he need treatment. This whole process was timely, expensive and caused a lot of anxiety in this young man.
  • It is cases like this that caused the Medical Ethics experts to write an article like this in BMC Medical Ethics article from 2018 that addressed persuasive communication in DTC services.
  • So, the diagnostic journey can be long for many individuals and this is frustrating. I wanted to point out a few facts about this journey as pertains to genetic testing
  • Let’s look at another case of a lifelong diagnostic odyssey
  • His endocrinologist when working him up for his autoimmune thyroiditis, decided to send MTHFR testing. He was found to be positive for two known pathogenic variants
  • He had also read about mitochondria and energy levels
  • So what is MTHFR? The MTHFR gene codes for a regulator in folate metabolism and therefore has a natural connection with nutrition in the form of folate supplementation. However, the variants are so common that research has failed to find a direct connection between these variants and true disease.
  • This title may suggest that there is a connection with autoimmune thyroiditis, but if you read the conclusion, you realize that these pathogenic variants are extremely common in the general population.
  • The ACMG has come out with a statement against testing for MTHFR. They addressed specifically the evaluation for thrombophilia because of the biochemical relationship with homocysteine.
  • However, this gene has been advertised as being connected with all sorts of ailments. This is one of the promoters of unsupported theories is the DTC testing of variant in the MTHFR gene
  • However, the hype goes on. MTHFR variants, according to the internet, can even determine whether your child should be immunized.
  • So lets’ go back to the case. Due to the infertility, a karyotype was done to rule out Klinefelter that was normal
  • The results of the comprehensive carrier panel was a surprise. He in fact had two mutations in the CFTR gene – however, they were intronic – meaning not in the coding sequences. He had a sweat test that was positive – confirming that he did in fact have CF.
  • While there may be symptoms that could not be explained by his CF, it certainly would explain his infertility, GI complaints, and endocrine disorders
  • His MTHFR is not felt to have any relevance to his complaints.
  • Finally, I am going to try to give some assistance with how and when to make a referral to a genetic or metabolic specialist.
  • There are some acute or urgent referrals. If you have appositive newborn screen for SMA, SCID or Pompe, the baby needs to be seen ass soon as possible. This might include other specialists as well as geneticists, depending upon the condition.
  • In certain metabolic disorders, the referral is not only acute, but may be emergent. The child should be evaluated clinically immediately, and then a plan made for further testing
  • When you have a child that has some unusual features, developmental delay, autism or frequent illness or other unexplained symptoms, a non-urgent referral to genetic or metabolic clinic might be in order. We would urge you to be suspicious when things just don’t fit. Try to characterize the symptoms as much as possible as far as duration, timing, body systems involved, etc. Collecting any past information will be helpful and we encourage you to reach out to ask questions of the metabolic or genetic specialist before referring.
  • These are some suggestions of helpful information for genetic and metabolic consultations. I will break this down for clarity..
  • For both genetic and metabolic consultations, it is helpful to clearly state the clinical question or chief complaint. What is it that is most worrisome to you? Family history is very important. If you do not have an extensive family history recorded, let the family know that they will need to ask family members for that information.

    Medical history is also very important.

    Sending records of any previous metabolic or genetic testing is really important, Not only is it times-taking to repeat tests, but insurance often does not cover repeat genetic testing.
  • If your consult is primarily metabolic in nature, there additional clues are important pieces of information to forward on.
  • If you suspect a non-metabolic genetic cause, really providing as much about the phenotype as possible is helpful. These include…
    Again remind the family that it is helpful for them to know as much about their family history as possible.
  • In some cases, the consult will be more effective if some preliminary testing is done prior to the genetic visit. One of those cases is a referral for a genetic cause of short stature. It is very helpful to
  • There are resources to let practitioners know about what their patients should expect at a genetics or metabolic clinic visit as well as the information that is helpful to provide. The New England regional genetics network provides both a pdf of a brochure as well as a soon to be posted video covering these topics. The pdf can be found at the website address listed below. In addition, the Weitzman Institute has brochures about their econsult service that also provide a list of indications for referral that can be helpful

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