Paediatric Genetic Counselling

With the rapid integration of genetics into all aspects of modern medicine, genetic counselling is becoming an integrative part of patient care. Genetic counselling is a holistic approach to genetic medicine to ensure that a patient receives the appropriate testing and the necessary support both before, and after testing. The paediatric genetic counselling core at Al Jalila Children’s is integrated across numerous departments within the hospital to aid physicians in ordering the relevant genetic tests, consenting families, and interpreting the results in context of the patient’s family history.

Our core is also available as a service for healthcare providers outside of Al Jalila Children’s as part of our state-of-the-art Genomics Centre. We are here to support physicians who are planning on ordering genetic testing, or need assistance counselling families on the return of results. We work with physicians and paediatricians to select the most appropriate genetic testing and ensure that the most relevant results are found for the patient in the quickest time and at the lowest cost to the family. Our genetic counsellors do not make a diagnosis of a patient without the collaboration of a physician.

Our team will meet the family to discuss the results of the genetic test in detail and what the implications for the patient and family are in the context of the family history. Once a diagnosis has been made, our team will make the referrals for follow up with the appropriate specialists.

Who are genetic counsellors?
Genetic counsellors are healthcare professionals who are trained in both the fields of genetics and counselling. Their expertise in these fields supports healthcare providers identify the most appropriate test for each individual and provides support for families throughout the genetic testing process. Research is a key part of a genetic counsellors training and, combined with ongoing education, our team is aware of new research and clinical trials which may be applicable to your patient.

Our genetic counsellors are committed to providing families with the information and support they need when undergoing genetic testing. Genetic testing can be confusing and our team is available to ensure that process is as effortless as possible. It is important to know the possible implications of genetic testing before they are ordered. Our genetic counsellors will educate the patient’s family on all possible outcomes, including what a positive result may mean for them and obtain their consent before testing.

What to expect during a visit with a genetic counsellor
A genetic counsellor will take the time to cover the basics of genetics. Understanding this information will help patients understand the purpose of the testing and the implications of possible results.

A detailed multi-generational family history will be taken. This information is important in genetics as it helps genetics specialists to identify possible genetic conditions present in the family, or help guide genetic testing.

Before genetic testing is sent, the test will be reviewed with the family. If there are any questions regarding the purpose of the testing, the genetic counsellor will answer these questions before consenting the family to proceed with the test.

Once the genetic test results have been returned, a genetic counsellor will meet to discuss the findings of the test, the implications for the family and answer any questions you may have.

Our team will identify suitable support and resources for the family with a new diagnosis and refer to the necessary specialists for medical management as appropriate.

If your patient has previously had genetic testing, this information will need to be sent before their appointment.

What makes us different?

  • Al Jalila Children’s is one of the very few centres in the region to staff American board-certified genetic counsellors. Our genetic counsellors are certified from their respective organizations, including the American Board of Genetic Counsellors.
  • With numerous paediatric specialities within Al Jalila Children’s, our team can make the appropriate referrals within the hospital, creating a coordinated healthcare plan between the different departments.

Whole Exome Sequencing, should be considered for:

  • Complex presentations where multiple, non-overlapping features are involved
  • Genetically heterogeneous disorders for which no genetic test is available, and/or
  • Disorders with highly suspected genetic etiology but exhaustive targeted genetic testing did not reveal an answer

Genome-wide, SNP-based chromosomal microarrays, should be considered for children with:

  • Developmental delays
  • Intellectual disability
  • Multiple congenital anomalies, and/or
  • Autism spectrum disorders

Single and Multi-gene next generation sequencing disease panels for several paediatric disorders, including but not limited to:

Neurodevelopmental disorders, such as:

  • Epilepsy
  • Neuromuscular disease
  • Angelman-like/Rett syndrome
  • Kabuki syndrome
  • Rubinstein Taybi syndrome
  • Noonan syndrome
  • Cornelia de Lange
  • Neurofibromatosis
  • CHARGE syndrome

Hearing Loss-related disorders, such as:

  • Non-Syndromic Hearing Loss
  • Alport syndrome
  • Stickler syndrome
  • Waardenburg syndrome
  • Marshall syndrome
  • Branchio-oto-renal syndrome
  • Usher syndrome
  • Perrault syndrome

Gastroenterology disorders, such as:

  • Very Early Onset Inflammatory Bowel Disease (VEO-IBD)
  • Congenital diarrhea
  • Cholestasis
  • Pancreatitis
  • Alagille syndrome

Pulmonary disorders, such as:

  • Cystic Fibrosis
  • Pulmonary hypertension
  • Neonatal Respiratory distress
  • Primary Ciliary Dyskinesia

Skeletal and connective tissue disorders, such as:

  • Marfan syndrome
  • Craniofacial disorders
  • Craniosynostosis
  • Osteogenesis Imperfecta
  • Connective tissue disorders
  • Achondroplasia

Endocrinology disorders, such as:

  • Monogenic diabetes
  • Monogenic obesity
  • Glycogen Storage disorders
  • Ketotic hypoglycemia
  • Short stature
  • Hyperinsulinism

Immunology and rheumatology disorders, such as:

  • Humoral dysfunction
  • Severe combined Immunodeficiency
  • Complement deficiency
  • Auto-inflammatory disease

*All the above panels can include exon-level copy number analysis (exon-level microarrays)

Fragment analysis – including targeted testing for:

  • Fragile X repeat expansion
  • Prader willi/Angelman methylation
  • Spinal Muscular Atrophy (SMA)
  • DiGeorge syndrome (22q11.2)
  • Williams syndrome
  • Smith Magenis syndrome

 

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