Pediatric and Adult Genetic Evaluation and Consultation Services 

 

Pediatric and adult genetic services include a genetic evaluation and consultation provided by a clinical geneticist.  Clinical geneticists are physicians who have primary medical training in another area of medicine and are specially trained in clinical medical genetics.  Often, a clinical geneticist works with a genetic counselor.  Genetic counselors are professionals who completed postgraduate education in medical genetics and counseling. Who can benefit from genetic evaluation and consultation services? 

 

(PLEASE NOTE: This list is meant to serve as a guideline and may not include every possible indication for referral for genetics services.) 

 

  • Newborns, Children or Adults with:

  • Birth defect(s)

  • Abnormal newborn screening result

  • Mental retardation

  • Learning disabilities

  • Developmental delay

  • Autism or autistic features

  • Speech delay

  • Growth failure

  • Failure to thrive

  • Neuropsychiatric disorders

  • Hearing impairment

  • Visual impairment

  • Unusual physical features

  • Adolescents or Adults with:

  • Reproductive health problems (examples: history of infertility / multiple miscarriages / stillbirth, failure to develop at puberty, failure to menstruate, etc.)

  • Strong personal and/or family history of cancer


What is the purpose of a genetics evaluation?

  • To establish or confirm a specific diagnosis, if possible

  • To complete testing that might help confirm or rule out a specific disorder or group of disorders.

  • To assess recurrence risks for family members (risks for future children or other relatives)

  • To provide individualized, education and support

  • To make referrals to appropriate specialists, if indicated

  • To outline and provide future medical management and follow up


Questions families often have during a genetic consultation:

  • Why did the condition occur?

  • What future problems may occur with the condition?

  • Can these problems be avoided or alleviated?

  • How can the symptoms be managed?

  • What are the chances that the condition may occur again in another child?

  • Who else in my family may be affected?

  • Common reasons for established patients to seek genetic services:

  • Assess new medical problems and related concerns

  • Assess compliance with and efficacy of recommended management

  • Provide ongoing, age appropriate education, including new testing options and management guidelines

  • Evaluate other at risk family members


What Happens During a Genetic Evaluation?
A genetics evaluation generally includes:

  • Discussion of the reason for the referral

  • Review of the family, medical and pregnancy histories

  • A detailed physical examination looking for unique or unusual physical characteristics that might offer clues to the underlying cause of a condition.

  • Once the family history is reviewed and the physical exam completed, the clinical geneticist discusses his or her impressions with the family.  Sometimes testing may be recommended to help make a diagnosis.

  • This is a very individualized process.   The genetic specialist can attempt to answer all of a family’s questions about what to expect in the future, current medical and/or health  implications, available treatment options, the chance to have additional children with the same diagnosis, other family members that may also be at risk and available prenatal diagnostic options.

 

 

Locate genetics services in New Jersey
 


 

CONTACT US:  humangeneticsnj@gmail.com

 

DISCLAIMER:  The information contained in the Human Genetics Association of New Jersey, Inc. web site is intended for educational purposes only. Individuals requiring genetic evaluation or medical treatment should contact their local genetics center or health care provider for appropriate care.  Inclusion of a link to an online resource does not represent an endorsement of that site by the Human Genetics Association of New Jersey, Inc.

$60 membership fee (includes CEUs for full year )

$75 CEU fee for non-members

$25 NON-MEMBER CEU fee for MAY 2018 FULL DAY CONFERENCE ONLY