Tiny Giants

Clinical Geneticist: Specialised Care for Genetic Conditions

Our Clinical Geneticist is a medical specialist who diagnoses, manages, and treats genetic disorders. These professionals play a critical role in identifying inherited conditions, providing personalised medical care for individuals with genetic abnormalities, and offering guidance for families who may be at risk.

Key Responsibilities of a Clinical Geneticist:

  • Diagnosis of Genetic Disorders: Clinical geneticists specialise in identifying conditions caused by changes in genes or chromosomes. They use a variety of advanced genetic testing methods to diagnose conditions like congenital abnormalities, inherited or spontaneous syndromes.

  • Family History Evaluation: By analysing family medical history, geneticists can assess the likelihood of inherited conditions and provide crucial insights for future family planning, especially for families with known genetic disorders.

  • Genetic Counselling: Our specialist provides families with detailed information about their diagnosis. This includes discussing the risks, potential treatments, and implications for family members.

  • Personalised Treatment Plans: After a diagnosis, we develop a customised care plan tailored to the patient’s specific genetic condition. This may include further investigations, screening target organs, medication, lifestyle changes, and coordination with other healthcare providers.

  • Prenatal Genetic Testing: Expectant parents may seek out genetic testing during pregnancy to identify any potential genetic conditions that may affect their baby. We provide these services and help interpret the results.
    Common Conditions Treated by Geneticists:
  • Inherited Disorders: Conditions such as cystic fibrosis, sickle cell anaemia, and muscular dystrophy.
  • Genetic Syndromes: Syndromes like Noonan syndrome, Silver Russell syndrome, and Marfan syndrome.

     

  • Metabolic Disorders: Rare metabolic conditions that can impact growth and development.

     

  • Inherited Cancers: Geneticists can assess the risk for cancers like hereditary breast and ovarian cancer (BRCA1/BRCA2) and Lynch syndrome.

     

  • Chromosomal Abnormalities: Conditions caused by missing or extra chromosomes, such as trisomy 21 (Down syndrome), Kilentar syndrome (XXY) or Turner syndrome (XO).
 
     How a Clinical Geneticist Can Help:
  • Comprehensive Genetic Testing: Utilising the latest in genetic testing technologies to provide precise diagnoses.
 
  • Collaborative Care: Working alongside other specialists to ensure a coordinated approach to managing complex genetic conditions.
 
  • Education and Support: Offering resources, education, and support to help patients and families understand and navigate their genetic conditions. 
 
Take Control of Your Health – Understand Your Genetics with Our Expert Help!

Our team provides professional, confidential genetic counselling and testing services integrating the latest in genetic testing technology.