Patient Referral Information

Pedigree Analysis and Genetic Counsellors

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Referral Information

Patients can be referred to their nearest specialist center.
Most specialist centers support family communication, education and diagnosis with periodic family meetings and open clinics, sample collection and distribution of testing kits.

Educational aids for both healthcare professionals and patients are available from your local Shire representative.

These include:

  • An educational leaflet for patients
  • A summary booklet for healthcare professionals
  • An electronic tool for healthcare professionals
  • A training course for non-geneticists

Pedigree Analysis

When there is a suspicion that a patient may be affected by Gaucher disease a Pedigree Analysis should be undertaken to both inform diagnosis and identify the patient’s at-risk relatives.

A Pedigree is a multigenerational diagram that references genetic relationships, demographic information and the health history of a family. Pedigrees use standard symbols and specific terminology, thus allowing the representation of large amounts of information to visualize inheritance patterns and occurrence of disease manifestations.1

1. BENNETT RL, et al. J Genet Counsel. 2008;17:424–433
Example Pedigree Analysis

Pedigree Analysis usually involves the collection of the patient’s family history up to three generations. There is standard human Pedigree nomenclature1 and the analysis can be drawn up by hand or using Pedigree drawing software.

Once complete, Pedigree Analysis represents the family genetic relationships, demographic information and the family health history. The analysis allows visualization of inheritance patterns, identification of at-risk relatives and identification of potential carriers.

1. BENNETT RL, et al. J Genet Counsel. 2008;17:424–433

Genetic Counsellors

Following a diagnosis of Gaucher disease genetic counselling should be offered to every patient to assist them in assessing the situation, and decide if/how to communicate with their family. Denial and lack of communication with the family are frequently observed, especially in cases of severe disease manifestations. Family tensions are often exposed following a diagnosis.

Genetic counselling should also be offered to family members. This involves an attempt by appropriately trained people to help the individual or family to:

  • Comprehend the medical facts (including the diagnosis, probable course of disorder and available management options)
  • Appreciate the way heredity contributes to the disorder, and the risk of recurrence in specified relatives
  • Understand the alternatives for dealing with the risk of recurrence
    Choose the appropriate course of action in view of their risk, their family goals and their ethical and religious standard
  • Make the best possible adjustment to the disorder in an affected family member1
1. Ad Hoc Committee on Genetic Counseling. Am J Hum Genet. 1975; 27:240–242.
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