Spotlight on...Maternal-Foetal Medicine #GenomicsConversation

Maternal-Foetal Medicine and Genomics

This week is the national #GenomicsConversation week of action, part of a campaign launched by the Genomics Education Programme (GEP) to dispel the myths, explain the facts and outline the clinical impact of genomics. At South East we will be sharing a series of interviews with different health professionals where they discuss how genomics is changing how they care for their patients.

Last in our Spotlight on Genomics series, we interviewed Dr Srividhya Sankaran, a consultant at St Thomas’ Hospital, London.

Dr Srividhya Sankaran- Maternal Fetal Medicine and Genomics NEWS

With the roll-out of the new Genomic Medicine Service this year, whole genome sequencing will for the first time be available as an NHS test and become a routine part of medical care for certain rare diseases and cancers. How do you envisage implementing this within your service?   

This will be extremely relevant to our practice in antenatal and preconceptional setting. Often, the conditions that exist in family are not thought of until the couple plan for a pregnancy, or as soon as they fall pregnant.

What is your role and specialty of interest? 

I am a consultant in maternal-foetal medicine. I am involved in performing ultrasound scans, invasive and therapeutic procedures.

Do you use genomics in your clinical practice now? 

Yes. We are using NIPT for screening trisomies, NIPD for monogenic conditions and invasive procedures to look for genetic abnormalities.

What most excites you about genomics? 

To find an answer to the question about “why there is an abnormality in growth and/or structure in a foetus? What does it mean to the life of the baby and parents after birth? Does it affect the way we manage their future pregnancy? Does it have an impact on family?”

What do you feel are the benefits of genomic medicine for your patients? 

Being able to offer these tests for parents would help us to select suitable options such as preimplantation genetic diagnosis (PGD) or prenatal genetic diagnosis (PND) to identify the foetus that is affected.

Do you have any suggestions on how we can raise awareness of genomics amongst your colleagues? 

By organising fairs/workshops and using hospital internal communication channels such as IT desktop profiles.

Do you have any suggestions on how we can raise public awareness of genomics? 

By electronic posters that can be shared via social media such as WhatsApp, twitter, Facebook.

What does the future hold for genomics in your field?   

It will transform the way in which we will practice foetal medicine. The uptake by parents will be phenomenal.

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With any Whole Genome Sequencing (WGS) test ordered, a Record of Discussion (RoD) form will also need to be submitted. This document is to record the patient’s consent for genomic testing and their choice on taking part in research. Guidance on the patient choice conversation can be found here
This RoD form will be available for clinicians to download from this webpage. Once completed with the patient, it can be send to the lab with the corresponding test order form and sample.
Tests available to order will be listed in the National Genomic Test Directory. A test order form will soon be made available for clinicians on this webpage to download and complete. This form will include the address of the laboratory that the appropriate sample and completed form needs to be sent to.
Until the new Genomic Laboratory Service goes live, please continue to follow existing test order processes.
Later this year, the online test ordering tool for Whole Genome Sequencing will be integrated into the National Genomics Informatics System (NGIS) and clinicians will be able to search or filter to find a clinical indication, confirm eligibility criteria and start the test request process for their patient.