Growing consumer awareness and the increasing availability of genetic tests for many conditions is likely increasing the number of questions your patients are asking about their risk of disease, the risk to their offspring and whether genetic testing is right for them. Genetic counselors can help you address your patients’ needs and incorporate genetics and genomics into your practice.
1. What is Pediatric & Clinical Genetics?
Pediatric and Clinical Genetics is a medical specialty for children and adults. It involves the evaluation of patients for dysmorphic features, metabolic conditions, and heritable syndromes.
2. Whom should I refer to a genetic counselor specializing in Pediatric & Clinical Genetics?
A referral is appropriate for any individual with (but not limited to) the following:
- Abnormal genetic testing results and/or abnormal newborn screening results
- Birth defects
- Neurologic and/or neuromuscular disorders
- Developmental delay/Intellectual disability/Mental retardation
- Autism spectrum disorders
- Failure to Thrive, Short Stature or Overgrowth
- Skeletal/Bone dysplasia
- Vision loss/Hearing loss
- Inherited blood disorders
- Inborn errors of metabolism
- Individuals with dysmorphic features
- Skin/dental disorders with a suspected genetic etiology
- Certain types of pediatric cancer
- Seizures
3. What benefits does a genetic counselor specializing in Pediatric & Clinical Genetics provide to my patients?
Genetic counselors who specialize in Pediatric & Clinical Genetics are active members of the healthcare team involved in evaluating your patient. Genetic counselors often work with families throughout the referral and diagnostic process by assisting in the triaging of individuals referred for a genetics evaluation, discussing the utility of and basis for the referral with the family/patient, participating in the diagnostic evaluation and determination of appropriate testing options, and coordinating the patient’s ongoing care by facilitating communication with both the patient’s primary care provider and other medical specialists that the patient sees.
Genetic counselors specialize in translating complex genetic information into understandable terms for both patients and their health care providers. Genetic counselors work closely with patients and families in order to provide comprehensive information about the diagnosis or possible diagnoses, medical and anticipatory guidance, and when necessary, risk assessments for the patient and other family members. Genetic counselors also play a critical role in assisting with the transition of patients from pediatric to adult care. Most importantly, genetic counselors serve as patient advocates and represent a valuable resource for other providers involved in the patient’s care.
4. What do I tell my patients about a referral to Pediatric & Clinical Genetics?
During the genetics evaluation, the genetic counselor will meet with the family to obtain a comprehensive history, usually including a prenatal, medical, family, and developmental history. Following a physical examination, in coordination with the medical geneticist the genetic counselor will discuss the possible diagnosis(es) and explain whether there are any recommended testing options. Genetic counselors specialize is assisting families/patients to make an autonomous decision about genetic testing by helping them to consider the potential testing implications for both for the patient and at-risk family members. Genetic counselors can help identify resources to assist the family in dealing with a new diagnosis, or perhaps coming to grips with the absence of a definitive diagnosis at that time.
5. Where can I find a genetic counselor specializing in Pediatric & Clinical Genetics?
Search the NSGC Find a Genetic Counselor Directory and select Pediatric & Clinical Genetics under type of specialty.
6. What evidence is there to recommend or support genetic counseling in Pediatric & Clinical Genetics?
There are several practice guidelines published by the American College of Medical Genetics (ACMG) and the American Society of Human Genetics (ASHG) which support referral for pediatric and adult genetic counseling services. See list below for some relevant examples.
ACMG
Genetic Referral
Pletcher BA, Toriello HV, Noblin SJ, Seaver LH, Driscoll DA, Bennett RL, Gross SJ. Indications for Genetic Referral: A Guide for Healthcare Providers(2007) Genet Med, 9:6:385-389.
Genetic Testing
Manning M and Hudgins L. Array-Based Technology and Recommendations for Utilization in Medical Genetics Practice for Detection of Chromosomal Abnormalities. (2010) Genet Med, 12:11:742-745.
Shaffer LG; Merican College of Medical Genetics Professional Practice and Guidelines Committee. American College of Medical Genetics Guideline on the Cytogenetic Evaluation of the Individual with Developmental Delay or Mental Retardation. (2005) Genet Med, 7:9:650-654.
Cystic Fibrosis
Watson MS, Cutting GR, Desnick RJ, Driscoll DA, Klinger K, Mennuti M, Palomaki GE, Popovich BW, Pratt VM, Rohlfs EM, Strom CM, Richards CS, Witt DR, Grody WW. Cystic Fibrosis Population Carrier Screening: 2004 Revision of American College of Medical Genetics Mutation Panel. (2004) Genet Med, 6:5:387-391.
Factor V Leiden
Grody WW, Griffin JH, Taylor AK, Korf BR, Heit JA. American College of Medical Genetics Consensus Statement on Factor V Leiden Mutation Testing. (2001) Genet Med, 3:2:139-148. Reaffirmed 2006.
Fragile X syndrome
Sherman S, Pletcher BA, Driscoll DA. Fragile X Syndrome: Diagnostic and Carrier Testing (2005) Genet Med, 7:8:584-587.
Genetic Testing In Children and Adolescents
The American Society of Human Genetics Board of Directors and the American College of Medical Genetics (ACMG) Board of Directors’ Report. Points to Consider: Ethical Legal and Psychosocial Implications of Genetic Testing in Children and Adolescents. (1995) Am J Hum Genet, 57:1233-1241.
Hearing Loss
ACMG Statement. Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss ACMG Reaffirmed 2005
Hemihyperplasia
Clericuzio CL, Martin RA. Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia. (2009) Genet Med, 11:220-222.
Autism
Clinical Genetics Evaluation in Identifying the Etiology of Autism Spectrum Disorders. . ACMG (2008) Genet Med, 10:4:301-305.
Newborn Screening
Newborn Screening ACT Sheets and Confirmatory Algorithms. ACMG (2006) Funded in part through MCHB/HRSA/HHS grant #U22MC03957.
Osteogenesis Imperfecta
Byers PH, Krakow D, Nunes ME, Pepin M. Genetic Evaluation of Suspected Osteogenesis Imperfecta (OI). (2006) Genet Med, 8:6:383-388.
Pompe Disease
Ishnani PS, Steiner RD, Bali D, Berger , Byrne BJ, Case LE, Crowley JF, Downs S, Howell RR, Kravitz RM, Macey J, Marsden D, Martins AM, Millington DS, Nicoloino M, O’Grady G, Patterson MC, Rapoport DM, Slonim A, Spencer CT, Tifft CJ, Watson MS. Pompe Disease Diagnosis and Management Guideline. (2006) Genet Med, 8:5:267-288.
Prader-Willi and Angelman Syndrome
Diagnostic Testing for Prader-Willi and Angelman Syndromes: Report of the ASHG/ACMG Test and Technology Transfer Committee. (1996) Am J Hum Genet, 58:1085-1088. Reaffirmed 2005.
Short Stature
Seaver LH, Irons M; American College of Medical Genetics (ACMG) Professional Practice and Guidelines Committee. ACMG practice guideline: Genetic evaluation of short stature . (2009) Genet Med, 11:465-470.
Uniparental Disomy
Shaffer LG, Agan N, Goldber JD, Ledbetter DH, Longshore JW, Cassidy SB. American College of Medical Genetics Statement on Diagnostic Testing for Uniparental Disomy. Genet Med, 3(3):206-211.
NSGC
Cancer Risk - Under Revision
Trepanier A, Ahrens M, McKinnon W, Peters J, Stopfer J, Grumet SC, Manley S, Culver JO, Acton R, Larsen-Haidle J, Correia LA, Bennett R, Pettersen B, Ferlita TD, Costalas JW, Hunt K, Donlon S, Skzynia C, Farrell C, Callif-Daley F, Vockley CW. (2004) Genetic cancer risk assessment and counseling: Recommendations of the National Society of Genetic Counselors. J Genet Couns,13(2):83-114.
http://www.springerlink.com/link.asp?id=v053u7467071k047
Consanguinity - Reaffirmed September 2009
Bennett RL, Motulsky AG, Bittles A, Hudgins L, Uhrich S, Doyle DL, Silvey K, Scott CR, Cheng E, McGillivray B, et al. (2002) Genetic counseling and screening of consanguineous couples and their offspring: Recommendations of the National Society of Genetic Counselors. J Genet Couns, 11(2):97-119.
http://www.springerlink.com/link.asp?id=uxwm5qr18j5lgrdt
Cystic Fibrosis – Under Revision
Langfelder-Schwind E, Kloza E, Sugarman E, Pettersen B, Brown T, Jensen K, Marcus S, Redman J; NSGC Subcommittee on Cystic Fibrosis Carrier Testing (2005) Cystic fibrosis prenatal screening in genetic counseling practice: Recommendations of the National Society of Genetic Counselors. J Genet Couns,14(1):1-15.
http://www.springerlink.com/link.asp?id=g3813123744716h4
Fabry Disease - Under Revision
Bennett RL, Hart KA, O’Rourke E, Barranger JA, Johnson J, MacDermot KD, Pastores GM, Steiner RD, Thadhani R. (2002) Fabry disease in genetic counseling practice: Recommendations of the National Society of Genetic Counselors. J Genet Couns, 11(2):121-146.
http://www.springerlink.com/link.asp?id=pd2ejhrnrwtxac20
Fragile X Syndrome - Under Revision
McConkie-Rosell A, Finucane B, Cronister A, Abrams L, Bennett RL, & Pettersen BJ (2005) Genetic counseling for Fragile X syndrome: Updated recommendations of the National Society of Genetic Counselors. J Genet Couns, 14(4):249-270.
http://www.springerlink.com/link.asp?id=r54356r13r0740u7
Neurofibromatosis Type 1- Reaffirmed October 2009
Radtke HB, Sebold CD, Allison C, Larsen Haidle J, Schneider G. (2007) Neurofibromatosis Type 1 in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors. J Genet Couns, 16(4):387-407.
http://www.springerlink.com/link.asp?id=0365g21w57351w87