The genomic revolution: A practical guide to what you can’t afford not to know - Part 2

Amanda Pichini completed her Bachelor of Science degree in Genetics and Biochemistry at Western University in 2011, and her Master of Science in Genetic Counselling at the University of Toronto in 2013. She has previously worked as a laboratory-based genetic counsellor in Canada, supporting clinicians regarding genetic testing options and results. Since moving to England in 2014, Amanda has been working with the Bristol Regional Clinical Genetics Service, providing genetic counselling to patients and families with a wide range of conditions. Amanda was the Lead Genomics Practitioner for the West of England Genomic Medicine Centre, which facilitated enrolment of patients to the national 100,000 Genomes Project. She is currently working with Health Education England’s Genomics Education Programme, providing subject matter expertise to develop competency frameworks and resources to support healthcare professionals that will be involved in requesting genomic testing. Amanda supports trainees with clinical rotations and research projects, and is passionate about educating healthcare professionals to support the integration of genomic medicine into mainstream healthcare.

Vishakha completed her undergraduate training and medicine and surgery through Manipal College of Medical Sciences and undertook her internship in Nepal. She came to the U.K. and commenced her further medical training with a focus on colorectal surgery. Following this, she ventured into special needs education and worked as a special needs teacher. Vishakha then pursued two postgraduate qualifications and established her genetic counselling career with this knowledge base which she has been doing for 15 years. She was appointed as a Consultant Genetic Counsellor at Guy’s & St Thomas’ 5 years ago and jointly leads the cancer genetics service including the cancer risk assessment service and the hereditary breast and ovarian cancer service. Her role has involved implementing the family history network within nursing and the embedded genetic counselling model within cancer care. She leads an annual cancer genetics course which has attracted health professionals across all disciplines both nationally and internationally. Vishakha has held the position of Chair of the Genetic Counsellor Registration Board for three years which is the professional accredited regulator for the genetic counselling profession in the U.K. She is also an assessor for the Academy of Healthcare Science and a professional member of this regulatory body.

Jillian’s young son has a very rare genetic disease, which was diagnosed via the 100,000 Genomes Project in 2017. Since 2016 she’s been a member of the Participant Panel at Genomics England, which advises the senior leadership team about how to keep research participant/patient perspectives at the heart of what they do, and has been Chair of this Panel for the past three years. Jillian is a founding member of the People and Communities Forum advising the NHS Genomic Medicine Service about service delivery from patient perspectives, and is one of two patient/public representatives on the National Genomics Board which is guiding the implementation of the National Genomic Healthcare Strategy, Genome UK (published in September 2020). She is also a Lay Member of Health Data Research UK’s strategic delivery group. In addition, she is collaborating with academic researchers on several current projects exploring patient and research participant experiences in genomics. Jillian is also a founding Board member of the CureGRIN Foundation, a US-based patient-led research organisation seeking to drive forward scientific discoveries that will treat and potentially cure patients (like her son) with GRIN gene disorders. Prior to this chapter in her life, Jillian was a chartered Town Planner and worked both in private consultancy and in the civil service.