telemedicine applications in clinical genetics
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Telemedicine Applications in Clinical Genetics. Definitions. Telemedicine is the use of telecommunications to provide medical information and services

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Presentation Transcript
  • Telemedicine is the use of telecommunications to provide medical information and services
    • It may be as simple as two health professionals discussing a patient over the telephone, or as sophisticated as using satellite technology to broadcast a consultation between providers at facilities in two countries, using videoconferencing equipment or robotic technology.
  • Telehealth is a broader term and includes telemedicine, electronic medical records, online drug pharmacies, and distance education (DE) for teaching and continuing education.
  • Telegenetics is the application of telemedicine to clinical genetic services
current uses of telemedicine
Current Uses of Telemedicine
  • In flight
  • Space flight
  • Ship to shore
  • Armed forces
  • Mount Everest, Antarctica
  • Disaster areas
  • 911 & ambulance
current uses of telemedicine1
Current Uses of Telemedicine
  • HomeCare Wellness
  • TeleMonitoring programs
  • RX Reminder
  • Electronic Medical Records (EMR)
  • TeleCase Management
  • GPS Tracking

With current technology, any activity that you can do in person can be accomplished as a tele-genetics service

B. Schaefer

other genetic uses of tm
Other Genetic Uses of TM
  • Family counseling
    • Multi-site (same info)
  • Monitoring therapy
    • Metabolic disorders
  • Support groups
    • coordination
genetic uses of tm education
Genetic Uses of TMEducation
  • Degree program
    • Mid-America Genetic Education Consortium (MAGEC)
  • Team training
    • LEND
  • Continuing education
  • Patient education
  • Public education
genetic uses of tm research
Genetic Uses of TMResearch
  • Multi-site studies
  • Clinical trials (CTSA)
    • Inclusion of minority and rural patients
  • Monitoring and compliance
  • Evaluation of TM
    • Patients with autism
genetic uses of tm administration
Genetic Uses of TMAdministration
  • Interview job applicants
  • Meetings
    • Board, Committee, SIG, Regional, State
  • Orientation and staff development
  • Compliance
examples of services we have provided
Examples of Services we have Provided
  • Dysmorphology evaluations
    • Confirmed by on-site follow up
  • Genetic counseling
    • Especially good for following up results
  • Urgent NICU consultations
  • Cancer genetics sessions
  • Interdisciplinary team outreach
  • Procedure supervision
  • Participation in distant interdisciplinary team
1 statewide telehealth services for children with shcn
1. Statewide Telehealth Services for Children with SHCN
  • Multiple services can be provided through these links
  • It is understood that each community has its own unique needs and desires for services to be utilized through such a network
  • As such, a ‘menu’ of services is available to chose from by the home communities. Below is a list of potential services that can be provided. This list is not comprehensive, but representative of possible applications:
statewide telehealth services for children with shcn
Statewide Telehealth Services for Children with SHCN

1) Participation in the IEP and IFSP processes

A) MMI staff could perform the entire evaluation. We suspect that this would be necessary only on a temporary basis during times of need or crisis (summer hiatus, temporary suspension of team activities, etc.)

B) MMI staff could participate in the IEP / IFSP processes with an existing team as a gap - filling member (e.g. an existing team is in place , but does not have a physical therapist)

2) Direct (primary) patient assessments . These services could be provided for any of the MMI disciplines (clinical genetics, genetic counseling, physical therapy, occupational therapy, speech pathology, child psychology, developmental pediatrics, nutrition, nursing (case management), social work, recreational therapy, and diabetes / endocrinology).

statewide telehealth services for children with shcn1
Statewide Telehealth Services for Children with SHCN

3) Discipline specific consultative services on difficult cases (available for all MMI disciplines listed above)

4) Continuing education / training. An ongoing series of special topics, issues in the care of CSHCN, and new updates would be provided. These activities would be open to a broader audience than those for direct patient services.

5) Quality assurance monitoring of local teams. This would include help with Federal compliance reviews, ongoing team monitoring, and technical assistance in the development of local QA activities.

6) Provision of quaternary interdisciplinary services only available in Nebraska metropolitan areas

Speciality services in complicated disorders may only be found in Omaha and sometimes Lincoln. Even if the primary discipline is available to the patient, complex cases may require quaternary services. Examples of such services would include the interdisciplinary teams as well as services in sleep disorders, eneuresis / encopresis, autism and the neurobehavioral team.

outreach clinics



Outreach Clinics


Rapid City








(Cerebral Palsy)




North Platte

Grand Island



(Cerebral Palsy)


Title V $150,000 Teratogen Project $110,000

Appropriations $ 35,000Outreach Clinics $ 73,000

Total $183,000

[South Dakota $ 57,000] [ IHS contract $8000][MHCP Clinics]

2 epdst transition project
2. EPDST Transition Project
  • Transition Consultation
  • Resource collection
  • Education of HHSS Service Coordinators
  • Physician Education (build capacity)
    • Faculty
    • Community docs
  • Evaluation
transition consultation
Transition Consultation
  • Interdisciplinary team
    • Consumer / Family Advocate
    • Nurse
    • Adult psychiatrist (dual diagnosis)
    • Pharmacist
    • Developmental Pediatrician
    • Med-Ped physician
    • Ancillary (Genetics, Dentistry)
transition consultation1
Transition Consultation
  • YSCHN 15 – 17 years old (ideal)
  • 5 components
    • Initial visit (T1)
    • Information gathering
    • Concluding visit (T2)
    • Medical Transition Plan
    • Transition guidance / implementation
health care transition planning process health care transition clinic

Youth & referring

professional complete

paperwork & send

to CFC (in packet)

Youth hears about clinic

(SC, School Nurse,

Educator, etc.)



calls CFC

CFC has records

reviewed & schedules

appointment date

CSC contacts

ASC if


Confirmation letter

& HC assessment

sent to youth &

source of referral

Youth receives

report with




Youth & family are assisted in following their plan (Referrals contacted, youth linked with resources)


are completed

as needed

2nd visit draft plan

is reviewed with

youth and finalized




Health Care Transition Planning Process & Health Care Transition Clinic






Transition plan is

developed around

goals set at 1st clinic





resource development
Resource Development
  • Physician resource notebook
  • Individual planning resources

Coming soon to a DVD near you

  • A joint venture between The University of Arkansas for Medical Sciences, the Arkansas Department of Health and Human Services and the Arkansas Medical Society.
  • ANGELS is an acronym for Antenatal and Neonatal Guidelines, Education, and Learning System.
  • ANGELS has been an enormously successful program.
  • ANGELS is designed to provide best practices in diagnosing and treating high-risk pregnancies, providing continuing medical education for Arkansas obstetricians and family practice physicians, and facilitating referrals of pregnant women with severe medical complications to UAMS for specialized care.
nbs angels
  • 10 project deliverables:
    • Guidelines/protocols monitored, assessed and modified
    • Consultation for appropriate health-care providers
    • Perform second tier screening components
    • Development, education, refinement and dissemination of the Newborn Screening Follow-up guidelines/protocols.
    • Develop database and reporting system
    • Examine Medicaid claims data; cost analysis
    • Coordinate access to services
    • Perform an evaluation to compare outcomes
    • Develop the infrastructure and software to aid in identification and treatment and track case management of true-positive
    • Augment provision of metabolic formulas and foods
uams telemedicine services
UAMS Telemedicine Services
  • Telemedicine to 27 sites, adding 7 more this year
  • 7 deadly words of program development
  • Techno-phobia
  • Administrative inertia
  • Cost
  • Lack of adequate IT infrastructure
  • Lack of colleague buy in
  • Where to go for answers
  • Overcome barriers to access for underserved populations
    • Distance
    • Complicated transport
  • Save time and money
  • Expand services
  • Unexpected advantages
  • Have a lot fun
  • Avoid land travel