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Referrals to Genetics
Mark Korson, MD
VMP Genetics
December 14, 2021
1
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
MAKING THE BEST CHOICES
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
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
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?
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
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
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
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
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
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.
PREPARING FOR A
SUCCESSFUL VISIT
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
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
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.
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
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
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
Is a genetic evaluation appropriate?
2. Avoid ”fad-testing”
– MTHFR polymorphism testing for venous
thromboembolism, coronary heart disease, or
recurrent pregnancy loss
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
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…)
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
Resources re: Referrals
• New England Regional Genetics Network
https://www.negenetics.org/families
Resources re: genetic conditions
• New England Regional Genetics Network
Resources re: genetic conditions
• New England Regional Genetics Network
Resources re: genetic conditions
• New England Regional Genetics Network
Resources re: genetic conditions
• New England Regional Genetics Network
Resources re: genetic conditions
• New England Regional Genetics Network
Resources re: genetic conditions
• New England Regional Genetics Network
Resources re: genetic conditions
• New England Regional Genetics Network
https://www.negenetics.org/families
URGENT vs NON-URGENT
REFERRALS
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”)
Urgent referrals
• Referral to the Clinic/Emergency Department
• Positive newborn screen for:
– Urea cycle disorder
– Organic acidemia
– Galactosemia
– Fatty acid oxidation defect
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
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
Newborn screening
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
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
SENDING PATIENTS BACK TO THE
GENETICS CLINIC
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
Questions?
• Call Genetics or Metabolism
• We get calls all the time to discuss cases!
mkorson@vmpgenetics.com

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Referrals to Genetics

  • 1. Referrals to Genetics Mark Korson, MD VMP Genetics December 14, 2021 1
  • 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. MAKING THE BEST CHOICES
  • 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. 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. 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. 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. 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. 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. 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. 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. 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.
  • 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. 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. 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. 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. 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. 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. Is a genetic evaluation appropriate? 2. Avoid ”fad-testing” – MTHFR polymorphism testing for venous thromboembolism, coronary heart disease, or recurrent pregnancy loss
  • 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. 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. 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. Resources re: Referrals • New England Regional Genetics Network https://www.negenetics.org/families
  • 25. Resources re: genetic conditions • New England Regional Genetics Network
  • 26. Resources re: genetic conditions • New England Regional Genetics Network
  • 27. Resources re: genetic conditions • New England Regional Genetics Network
  • 28. Resources re: genetic conditions • New England Regional Genetics Network
  • 29. Resources re: genetic conditions • New England Regional Genetics Network
  • 30. Resources re: genetic conditions • New England Regional Genetics Network
  • 31. Resources re: genetic conditions • New England Regional Genetics Network https://www.negenetics.org/families
  • 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. Urgent referrals • Referral to the Clinic/Emergency Department • Positive newborn screen for: – Urea cycle disorder – Organic acidemia – Galactosemia – Fatty acid oxidation defect
  • 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. 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
  • 38.
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  • 40.
  • 41.
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  • 44.
  • 45. 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
  • 46. 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
  • 47. SENDING PATIENTS BACK TO THE GENETICS CLINIC
  • 48. 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
  • 49. Questions? • Call Genetics or Metabolism • We get calls all the time to discuss cases! mkorson@vmpgenetics.com