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King’s Genomic Testing Consent Form

Introduction 

This programme aims to identify genetic conditions in new-born babies that may require early  intervention. Before you proceed, please read this consent form carefully to understand the nature,  benefits, and potential risks of the screening. 

Purpose of the Screening 

The goal of this screening is to detect genetic variations that may indicate a predisposition to certain  health conditions. Early identification can allow for timely medical interventions and better health  outcomes. 

Procedure 

A small blood sample will be taken from your child, and their DNA will be analysed to identify genetic  variations. The results will be shared with you and your healthcare provider. 

The technology used is called whole genome sequencing. Although the test is capable of analysing  your child’s entire genome, for the purpose of relevance we will be only reporting for the presence of  around 400 genetic variations that will have implication on your child’s health at this moment. The  sequenced data can be re-analysed for other conditions any number of times in future. 

Potential Benefits

  1. Early detection of genetic conditions 
  2. Ability to manage and treat conditions proactively. 
  3. Informing healthcare decisions for your child

Unexpected Findings 

The screening may reveal unexpected genetic findings not related to the initial purpose of the test.  These findings could include:

  1. Genes associated with adult-onset conditions. 
  2. Carrier status for genetic disorders

Variants of Uncertain Significance (VUS) 

Some genetic variations identified may be classified as Variants of Uncertain Significance (VUS). These  are changes in the DNA whose impact on health is not yet known. To reduce the anxiety and  uncertainty related to test results for the purpose of newborn screening we will not be actively  reporting variants of uncertain significance. However, if the child develops symptoms of any particular  condition we can re analyse the genetic data to see if there are any variants of uncertain significance  related to those symptoms 

Implications on Wider Family 

The results of your child’s genetic screening could have implications for other family members.  Certain genetic conditions are hereditary, meaning other relatives could be affected. You may be 

King’s Genomic Testing Consent Form

encouraged to share relevant findings with family members who could benefit from this information  for their own health and genetic counselling. 

Implications on Insurance 

Participating in the genome screening programme may have implications for insurance. While current  laws in many jurisdictions protect against genetic discrimination, it is important to be aware that  genetic information could potentially impact life, disability, or long-term care insurance. We  recommend consulting with an insurance advisor to understand these implications fully. 

Confidentiality and Data Protection 

Your child’s genetic data will be stored securely and will only be accessible to authorized personnel.  Results will be shared with you and your healthcare provider. The data will only be used for research  with your specific separate written consent. 

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