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Lunch & Learn – Unique -Supporting families with rare chromosome or gene disorders

June 23 2023 @ 1:00 PM - 2:00 PM

Unique-Supporting families with rare chromosome or gene disorders

As part of rare chromosome awareness week, we are excited to be joined by representatives from

Unique, who will be discussing their role in supporting patients and professionals with pre and postnatal diagnosis of rare chromosome or gene disorders. This talk will also cover topics including implications of a diagnosis, and the language used by healthcare professionals.


Anita Davis Anita has worked as part of the Unique team for the last year. Her role at Unique is to support families and professionals with rare chromosome and specific single gene disorders. She is passionate about giving a listening ear and support to families who are facing a tough time. Her role is

to provide information and answer queries and to match families based on their rare chromosome disorder, symptoms or treatments.

Professionally Anita has worked as a Midwife for 26 years. In the latter part of her midwifery career, she was working in a department which offered screening and counselling for expectant mums, when an abnormality had been detected in a pregnancy. This is where she came across unique, when she was doing a genetic course at work.

Anita is also a


mum to 3 busy teenage boys, who all keep her on her toes and have their own unique challenges in life. Her eldest son, who is now fit and well, had cancer age 14 months old. Her middle son is on the autistic spectrum and the youngest son has size 15 feet, which presents a whole new challenge in itself!’

Website: www.rarechromo.org


Online Webinar
United Kingdom + Google Map
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.