guidelines for the genetic evaluation of congenital hearing loss in press genetics in medicine n.
Download
Skip this Video
Loading SlideShow in 5 Seconds..
Guidelines for the Genetic Evaluation of Congenital Hearing Loss ( In Press, Genetics in Medicine) PowerPoint Presentation
Download Presentation
Guidelines for the Genetic Evaluation of Congenital Hearing Loss ( In Press, Genetics in Medicine)

Loading in 2 Seconds...

play fullscreen
1 / 15

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


  • 110 Views
  • Uploaded on

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.

loader
I am the owner, or an agent authorized to act on behalf of the owner, of the copyrighted work described.
capcha
Download Presentation

PowerPoint Slideshow about 'Guidelines for the Genetic Evaluation of Congenital Hearing Loss ( In Press, Genetics in Medicine)' - glynn


An Image/Link below is provided (as is) to download presentation

Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author.While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server.


- - - - - - - - - - - - - - - - - - - - - - - - - - E N D - - - - - - - - - - - - - - - - - - - - - - - - - -
Presentation Transcript
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