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Guidelines for the Genetic Evaluation of Congenital Hearing Loss ( In Press, Genetics in Medicine) . Michael Watson, PhD HRSA/MCHB contract 01-MCHB-25A to ACMG. A Multidisciplinary Expert Panel 1. Walter Nance, MD, PhD - Med. Coll. Of VA, Chair Kathleen Arnos, PhD - Gallaudet Univ.

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Guidelines for the Genetic Evaluation of Congenital Hearing Loss ( In Press, Genetics in Medicine)


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guidelines for the genetic evaluation of congenital hearing loss in press genetics in medicine

Guidelines for the Genetic Evaluation of Congenital Hearing Loss ( In Press, Genetics in Medicine)

Michael Watson, PhD

HRSA/MCHB contract 01-MCHB-25A to ACMG

a multidisciplinary expert panel 1
A Multidisciplinary Expert Panel1
  • Walter Nance, MD, PhD - Med. Coll. Of VA, Chair
  • Kathleen Arnos, PhD - Gallaudet Univ.
  • John Carey, MD - Univ. of Utah Health Sciences
  • George Cunningham, MD - Calif. Dept. Health
  • Rena Falk, MD, - Cedars Sinai Med. Ctr.
  • Terese Finitzo, PhD - OZ Systems
  • Dynio Honrubia, MD - Harvard Med. Sch.
  • Bronya Keats, PhD - Louisiana State Univ. Sch. Of Med.
  • William Kimberling - Boys Town Nat’l. Med. Ctr.
  • Gail Lim, ARNP - Pediatrix Med Group
  • Cynthia Morton, PhD - Harvard Med. Sch.
a multidisciplinary expert panel 2
A Multidisciplinary Expert Panel2
  • Arti Pandya, MD, MBA - Med. Coll of VA
  • Mary Kay Pelias, PhD, JD - Louisiana State Sch of Med
  • James Skordas, CCCA - Pediatrix Med Group
  • Richard Smith, MD - Univ of iowa Hosp. and Clinics
  • Michael Watson, PhD - American Coll of Med Genetics

Ex-officio Members:

Colleen Boyle, PhD - CD Marie Mann, MD - HRSA

Aileen Kenneson, PhD - CDC Jay Sheehan, MS - HRSA

Amy Donahue, PhD - NIDCD Brad Therrell, PhD, NNSGRC

Karl White, PhD - NCHAM

Michele Lloyd-Puryear, MD, PhD - HRSA

hearing loss definition for this purpose
Hearing Loss Definition for this Purpose
  • Permanent
  • Bilateral or unilateral
  • sensory or conductive
  • >30 db loss in frequency important for speech recognition
hearing loss etiologies
Hearing Loss Etiologies
  • About 50% “environmental”
    • Some genetic susceptibilites
    • Some identified with genetic tests
  • About 50% genetic
    • 30% syndromic - over 400 syndromes described
    • over 75 NSHI-linked genes identified
    • over 30 syndrome-linked genes identified
slide6

Environmental

CMV meningitis

rubella prematurity

neonatal icterus

ototoxicity

other infections

Syndromic

~50%

Alport Norrie

Pendred Usher

Waardenburg

Branchio-oto-renal

Jervell and Lange-Nielsen

Deafness

~30%

~50%

Non-syndromic

Autosomal dominant

DFNA1 - DFNA3

22%

Genetic

Autosomal recessive

DFNB1 - DFNB30

77%

X-Linked

DFN1 - DFN8

~70%

~1%

~1%

Mitochondrial

the genetics evaluation genetic services overview
The Genetics Evaluation: Genetic Services Overview
  • What makes it hard
    • syndromology in infants
    • widely variable laboratory tests and expertise
    • very unstable knowledge base
    • tests and result interpretation ranging from easy to complex and still evolving
      • significant ethnic variability
      • common causes to private and very rare
    • rapid translation of research into service
  • We specialize in communicating uncertainty
genetic evaluation the expertise needed
Genetic Evaluation: The Expertise Needed
  • Knowledge of genetics of hearing loss
  • Dysmorphology
  • Audiology
  • Otolaryngology
  • Genetic counseling
  • Communication with the deaf and hard of hearing
  • Considerable secondary expertise needed
    • eye, heart, kidney, neurology etc.
critical evaluation components
Critical Evaluation Components
  • Family history (2-3 generation pedigree)
  • Ethnicity & country of origin
  • Inheritance pattern
  • Audiometric characteristics in family
  • Evidence of vestibular dysfunction
  • Syndrome vs. nonsyndromal
is it a syndrome 1
Is it a Syndrome? 1
  • Evaluate and inquire of family history for:
    • visual anomalies
    • facial/cervical dysmorphology
    • endocrine abnormalities
    • cardiac signs
    • renal abnormalities
    • skin and hair
is it a syndrome 2
Is it a Syndrome? 2
  • The patient history of risk factors
  • Physical examination
the genetic testing and triage paradigm 1
The Genetic Testing and Triage Paradigm1
  • Based on the genetic evaluation
    • If syndrome is suspected
      • test if possible
    • If nonsyndromic and isolated case
      • check CMV and GJB2 (connexin 26) gene sequencing
    • If syndromic and not isolated
      • check GJB2
the genetic testing and triage paradigm 2
The Genetic Testing and Triage Paradigm2
  • If nonsyndromic and suggestive of autosomal dominant
    • check connexin 26 and others
  • If nonsyndromic and appears mitochondrial
    • check connexin 26 and test mt genes associated with ototoxic response
  • If nonsyndromic and both parents deaf
    • likely connexin 26
the genetic testing and triage paradigm 3
The Genetic Testing and Triage Paradigm3
  • Genetic counseling and education to ensure that parents and patients understand the findings and limitations
    • Consider pre-test and post-test counseling
    • Cultural sensitivity
    • Provide information and support
  • Habilitation options
  • Follow-up
benefits of genetic evaluation
Benefits of Genetic Evaluation
  • Knowledge of etiology allows
    • appropriately targeted costly services
    • allays parental guilt
    • Recurrence chance assessment
    • empowers personalized health maintenance strategy