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Referrals to Genetics

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Referrals to Genetics

  1. 1. Referrals to Genetics Mark Korson, MD VMP Genetics December 14, 2021 1
  2. 2. Objectives By the end of this session, attendees will be able to: 1. Clarify an approach for determining the best family member to undergo an evaluation and choosing the most appropriate clinic 2. Identify the factors that can help ensure a successful experience in the clinic 3. List the reasons why a patient or family should return to Genetics clinic for a follow-up evaluation 2
  3. 3. MAKING THE BEST CHOICES
  4. 4. QUESTION “My father has colon cancer and my brothers have colon cancer. I am scared that this is running through my family and I am at risk.” Your patient is clearly worried and her anxiety is not unreasonable. What is your next move? A. Refer the patient to Genetics B. Get more information about the cancer C. Order a colon cancer DNA panel
  5. 5. ANSWER “My father has colon cancer and my brothers have colon cancer. I am scared that this is running through my family and I am at risk.” Your patient is clearly worried and her anxiety is not unreasonable. What is your next move? A. Refer the patient to Genetics B. Get more information about the cancer C. Order a colon cancer DNA panel
  6. 6. When presented with a problem • Don’t rush to test or refer the patient even though she is very worried now • Always get as much information as possible first: – Are the cancers the same? – Has genetic testing been performed in a family member?
  7. 7. QUESTION You learn that genetic testing has not been done on any family members. Referring your patient to the Genetics Clinic makes the most sense to address her concerns. A. True B. False
  8. 8. ANSWER You learn that genetic testing has not been done on any family members. Referring your patient to the Genetics Clinic makes the most sense to address her concerns. A. True B. False
  9. 9. Who is the best patient to refer? • Your patient has the worry • Her father and brothers are the ones with the disease. If testing is warranted and available: – Testing the one with the disease is more productive – If a pathogenic genetic alteration is identified, your patient can then be tested for that particular DNA alteration
  10. 10. If the one with the disease is gone • Have the family gather information (e.g., had genetic testing been done prior to death?) • A Genetics referral is reasonable
  11. 11. Heads up! • Not all Genetics programs provide all the same services, and some programs specialize in particular areas of Genetics so call ahead if you are referring to a new/unfamiliar program – Clinical/general – Organ-specific (cardiac, renal, ENT…) – Biochemical/metabolic – Prenatal – Cancer
  12. 12. Also… • If the patient has an organ-specific diagnosis (hearing loss, polycystic kidneys, hemoglobinopathy…), the specialty clinic may provide the essential genetic counseling/testing for the patients followed in that clinic. • Call ahead to find out.
  13. 13. PREPARING FOR A SUCCESSFUL VISIT
  14. 14. Clarify the question • There may be many questions to be answered (e.g., about a patient’s various symptoms) but identify the 1 or 2 overall questions to be addressed • When the patient has a collection of symptoms, best to keep the question open- ended, not “rule out XXXXXZ disease” • All other questions to be posed to the doctor should be written down, not memorized
  15. 15. QUESTION “I am referring you to a Genetics Clinic for genetic testing” …. This is a helpful statement to prepare patients/ parents for an upcoming clinic visit: A. True B. False
  16. 16. ANSWER “I am referring you to a Genetics Clinic for genetic testing” …. This is a helpful statement to prepare patients/ parents for an upcoming clinic visit: A. True B. False… Patients are referred for an evaluation. The geneticist will determine whether or not testing is necessary, and if so, what kind.
  17. 17. Characterize the symptoms • Where possible, define the symptoms first • Once done, better equipped to find a diagnosis • Example - “hearing loss” – Sensorineural hearing loss – Conductive hearing loss MORE RELEVANT LESS RELEVANT
  18. 18. Characterize the symptoms • Where possible, define the symptoms first • Once done, better equipped to find a diagnosis • Example - “hearing loss” – Sensorineural hearing loss – Conductive hearing loss MORE RELEVANT LESS RELEVANT
  19. 19. Is a genetic evaluation appropriate? 1. Parents might be afraid that their child might have the same adult-onset disease as his grandparent (e.g., hemochromatosis, Huntington disease) – Testing may be more appropriate in the children of the affected person, rather than the grandchildren – Testing in childhood is premature when there is nothing to be done until the adult years – DNA testing for adult-onset disease is generally prohibited <18 years of age
  20. 20. Is a genetic evaluation appropriate? 2. Avoid ”fad-testing” – MTHFR polymorphism testing for venous thromboembolism, coronary heart disease, or recurrent pregnancy loss
  21. 21. What to send ahead • Pertinent medical records (evaluations from elsewhere, including imaging and lab test results) • Alert the clinic if a family member has been evaluated already in the clinic
  22. 22. What to bring to the clinic visit • If the patient is dysmorphic  bring pictures at different ages, other family members for comparison • Family history information (ask around…)
  23. 23. Describe what will happen in the visit • … so that patients/parents are prepared: – Intake – Family history – Review of new material – Physical examination – Discussion – Possible genetic testing, along with a talk about insurance issues
  24. 24. Resources re: Referrals • New England Regional Genetics Network https://www.negenetics.org/families
  25. 25. Resources re: genetic conditions • New England Regional Genetics Network
  26. 26. Resources re: genetic conditions • New England Regional Genetics Network
  27. 27. Resources re: genetic conditions • New England Regional Genetics Network
  28. 28. Resources re: genetic conditions • New England Regional Genetics Network
  29. 29. Resources re: genetic conditions • New England Regional Genetics Network
  30. 30. Resources re: genetic conditions • New England Regional Genetics Network
  31. 31. Resources re: genetic conditions • New England Regional Genetics Network https://www.negenetics.org/families
  32. 32. URGENT vs NON-URGENT REFERRALS
  33. 33. Urgent referrals • Referral to the Clinic • Positive newborn screen for: – Spinal muscular atrophy – Severe combined immunodeficiency – Pompe disease • New information about a genetic disorder in the family: – Pregnant couple – Progressive or treatable disorder and patient is symptomatic • Facilitate the referral (don’t rely on the “system”)
  34. 34. Urgent referrals • Referral to the Clinic/Emergency Department • Positive newborn screen for: – Urea cycle disorder – Organic acidemia – Galactosemia – Fatty acid oxidation defect
  35. 35. Urgent referrals • Referral to the Clinic/Emergency Department • Positive newborn screen for: – Urea cycle disorder – Organic acidemia – Galactosemia – Fatty acid oxidation defect ENCEPHALOPATHY  COMA ENCEPHALOPATHY  COMA GRAM NEGATIVE SEPSIS HYPOGLYCEMIA
  36. 36. Urgent referrals • Referral to the Clinic/Emergency Department • Positive newborn screen for: – Urea cycle disorder – Organic acidemia – Galactosemia – Fatty acid oxidation defect • Call the family / see the patient - ?concerns • Page the Genetics/Metabolism service  make a plan ENCEPHALOPATHY  COMA ENCEPHALOPATHY  COMA GRAM NEGATIVE SEPSIS HYPOGLYCEMIA
  37. 37. Newborn screening
  38. 38. QUESTION A 6 year old girl was referred to Genetics because of multiple medical problems. A diagnosis was not made; whole exome sequencing was performed - negative. At 10 years of age, the diagnosis was still not known. Since whole exome sequencing was already performed, there is no reason to return to the Genetics Clinic. A. True B. False
  39. 39. ANSWER A 6 year old girl was referred to Genetics because of multiple medical problems. A diagnosis was not made; whole exome sequencing was performed - negative. At 10 years of age, the diagnosis was still not known. Since whole exome sequencing was already performed, there is no reason to return to the Genetics Clinic. A. True B. False
  40. 40. SENDING PATIENTS BACK TO THE GENETICS CLINIC
  41. 41. Consider a follow-up visit (3-5 years) • When the diagnosis has not yet been determined • If genetic testing was done but no answer was determined • If an indeterminate result was found (a VUS) • If genetic testing had not been approved by insurance during the previous evaluation • If the patient/parents still have questions
  42. 42. Questions? • Call Genetics or Metabolism • We get calls all the time to discuss cases! mkorson@vmpgenetics.com

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