Last week our CEO Dr Elin Haf Davies was in San Diego to participate in the Illumina Genomics Forum, a four-day event with an impressive lineup of speakers including Former President Barack Obama, Bill Gates (Gates Foundation), Anne Wojcicki (23&me – consumer genetics) and tennis star Chris Evert, all with a personal ambition to realise the value of the genome.

Elin Haf moderated a panel on the need to end the odyssey of diagnosis, a particularly important issue for the rare disease community who can often encounter numerous incorrect diagnoses and as long as a 7-year delay in diagnosis, delaying access to genetic counselling, opportunity to take part in clinical trials, and access to treatment.

With global representation from the UK, US, Brazil and Israel on the panel the complexities of cultural, religious and infrastructure differences were discussed. But two common fundamental aspects of the global widespread adoption of whole genome sequencing agreed upon by all are trust and communication, tied to the importance of a truly informed consent process.

While the science and technology might be already here, society as a whole needs an opportunity to keep afoot of the rapidly changing approach to medical care and the impact on them as individuals, families and communities, set against a backdrop of increased distrust towards government, big tech and science.

Newborn screening that enables access to life-saving treatment before a baby becomes critically ill is an obvious advantage. But what other risk factors, carrier status and variants do excited new parents need to know within two weeks of birth? 

  • Can too much data be a bad thing? 
  • Does data really empower individuals to lead to better health? 
  • Data is knowledge and knowledge is power is the old adage but is it true for all individual people in relation to their own health?

Many similar challenges apply to the widespread adoption of digital health. Cost, the vast amount of data, secure and accessible infrastructure, equity and education.

As we endeavour to make digitised clinical trials, electronic Clinical Outcome Assessments and hybrid or decentralised clinical trials a viable patient-centric option for the rare disease community most of the barriers are those linked to beliefs, perception and fear of change or the unknown.

The world is changing. Genomics and digital health are here to stay. Pandora is out of the box! It’s down to us to ensure that communication and trust are integrated into the development of both by building strong relationships with individual people, patient communities, regulators and industry.

To finish with an old African proverb, which is apt to note as we risk creating more inequalities in health,

“If you want to go fast, go alone. If you want to go far, go together.”

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