Ultra Rapid Genetic testing!!

“Tailor counselling in a way so as not to bombard parents/patients/clients with too much information, but give them the information they need to make decisions”

She beguiled them at her arrival with her charming attractive smile, but little did they knew what was ahead was going to be an unexpected, prolonged period of unanswered questions and pain. Stella was born in 2019 at Royal Children’s Hospital, Melbourne. However, she was immediately identified by one of the genetic doctor as floppier (tending to loosely hang), facial features unremarkable to an untrained eye, but a clear sign of possible genetic condition. Stella’s parents were distressed by the fact that they had not been able to take their baby home and they had barely left the hospital since their daughter was born six days earlier, Ms Ayres said.

Samantha Ayres a Genetic Counsellor, received an email to get immediately to  neonatal intensive care unit (NICU). There was no time to prepare, Ms Ayres an experienced genetic counsellor prepared and learnt as much as she could about Stella’s case while walking to meet the waiting anxious parents.

Stella’s parents had just become participants in a trial for ultra rapid genomic testing (less than 5 day turn around) available at NICU for infants with a genetic condition and is only available at a handful centres worldwide. Instead of waiting for months, the trial – part of the Australian Genomics Acute Care study – enables families to get their results back within a week. This is specially available for cases such as a rare disease which has not been identified, or has been recently identified.


Rare Disease has been identified by the Global Alliance for Genomics and Health as one of two key areas where a collaborative data-sharing approach has the most immediate potential to directly benefit patients.The Australian Genomics Flagship model is designed to drive this research into nationwide implementation of genomic testing, integrating with their four research programs as frameworks for translation.Each Flagship project is underpinned by strong existing national and international clinical, diagnostic and research partnerships.The partnerships are supporting a ‘virtuous cycle’ of rapid translation and implementation through the exchange of information between clinicians and researchers to evaluate pathogenicity, gene discovery and the development of innovative diagnostic and treatment tools.

“If we had met Stella the previous year we wouldn’t have found a diagnosis for her” – Samantha Ayres

Acute care Genomics study was established only in 2018 to implement and evaluate a comprehensive multi-centre network for ultra-rapid genomic diagnosis in the Australian healthcare system. Stella’s family were enrolled into this study. Families are guided through the process by genetic counsellors like Ms Ayers. Having access to rapid genetic testing could give anxious families the answers they need. It may also give them the answers they dread, or no answers at all. But the chance of getting a definitive diagnosis fast can save a child’s life, guide their treatment, avoid more invasive testing or, tragically, plan their palliative care.

Role of a Genetic Counsellor:

Samantha Ayres is the lead author of a research paper exploring the effects of ultra-rapid genetic testing delivered in NICUs.

For those who learn their child has a terminal condition, rapid testing can cut short a long and traumatic search for a diagnosis. – Genetic counsellors are a critical component to the trial: unpicking complex science and medical histories all within the unpredictable environment of a NICU.

  • They walk families through the process of deciding whether to undergo testing, learning the results in the ensuing days, weeks and months.
  • Do the results have implications for their extended family? What are the chances the couple could have another baby with the same mutation?
  • How will their genetic information be stored and their privacy protected?
  • It’s challenging and often heart-wrenching ground to cover for vulnerable parents.

Stella’s parents were attentive as Ms Ayres explained how trio whole-exome sequencing worked: that Stella and her parents would both be tested for genetic anomalies.

“Sometimes we find there are treatment implications and for those families a diagnosis is really, really important,”

“I always try to get families to imagine what it would be like if we did find an answer, and if we didn’t,” Ms Ayres said.

“I didn’t want to take away their hope but I wanted them to be aware that this type of testing doesn’t always find answers for every family.”

In a family room a few metres from Stella’s NICU bed, Ms Ayres and the treating team told her parents that their daughter had an ultra-rare genetic condition that had only been described in scientific literature eight months earlier. It is so rare that naming the illness would identify her. In the first eight months, 23 families of babies in NICUs have taken part in the trial. Of these, 13 received diagnoses (57 per cent), Stella was one of those infants. Stella would need additional support throughout her life.

Ms Ayres described how Stella’s parents where hanging on every word she and her fellow genetic counsellors said (from Australian Genomics Health Alliance, Murdoch Children’s Research Institute and the Victorian Genetic Clinical Services).

Ms Ayres described how Stella’s parents where hanging on every word she and her fellow genetic counsellors said (from Australian Genomics Health Alliance, Murdoch Children’s Research Institute and the Victorian Genetic Clinical Services). She also described how she witnessed a relief of having a definitive diagnosis tinged with shock when they learned that there was a chance that any other children they conceived could have the same genetic mutation.

“My priority was to give them as much information as they felt they needed,” she said. The diagnosis meant Stella was spared other invasive tests and her parents could take her home.

“This is the case that demonstrated to me how the testing could really benefit families,” Ms Ayres said. The tests – which are free to families in the Acute Care Study – can cost upwards of $10,000 and are not appropriate for the vast majority of babies in NICUs. So far roughly 30 families have been recruited in Sydney and roughly 50 per cent have received a diagnosis.

Kirsten Boggs, a genetic counsellor with the Alliance and Sydney Children’s Hospital Network said the trial was a radical departure from the way genetic counsellors were used to working. They usually have time to get across the case and medical records, build a thorough family history and speak with the family on the phone before an in-depth face-to-face meeting in a therapeutic environment. Then there are the months they wait before the test results come back.

But the value of being able to give patients the chance of getting answers fast could not be underestimated, Ms Boggs said. “It’s a balancing act,” she said.

This paper uses illustrative cases as the basis to describe and discuss the emerging role of genetic counselors in NICU multidisciplinary care teams and the challenges and considerations which arise when facilitating ultra‐rapid genomic diagnoses in acutely unwell neonates. Counseling issues discussed include providing pre‐ and posttest counseling in the medicalized NICU setting, facilitating informed decision‐making at a time of acute distress for families, and special considerations around the possibility of ultra‐rare diagnoses in neonates at the beginning of their diagnostic trajectory.”

As indicated by Samantha Ayres and her colleagues, there needs to be a counselling interface between lab report and patient, especially in a charged environment where news may not always be good.

I had a few key takeaways from this article and with this I would like to let all students like me know that as important we think shadowing is and as we all are in this boat of COVID19 trying our best for opportunities, I personally feel reading good articles and following the work of genetic counselors virtually, like the above also teaches you skills that a genetic counselor uses on field. COVID19 has indeed been a positive change in many ways as it has surprisingly connected me to a whole new world of people like you and made me realize that learning can be done in many alternate ways, its only a matter of pushing yourself beyond your comfort zone and looking for knowledge at places where you in normal times wouldn’t.

Stay tuned for my next interview with a Genetic counselor from India where she taught me a simple technique that I am definitely looking forward to use on filed when i become a Genetic Counselor!!!

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