ILD

IPF can learn lessons from oncology


Genetic testing in idiopathic pulmonary fibrosis (IPF) can help patients now – even without the targeted medicines that will inevitably become available, according to an expert in telomere-mediated disease.

Dr Mary Armanios, Professor of Oncology at John Hopkins Medicine, told the ATS 2018 International Conference, that genetic testing in patients with a family history of IPF could help avoid the risks associated with a biopsy.

“Open lung biopsy is associated with a 2-5% mortality on good days so one should consider and must explain to the patient the possibility that a genetic test might give the answer in lieu of or in advance of a biopsy.”

She said the other opportunity was in identifying patients who might have an adverse prognosis after lung transplantation.

“There is evidence and will be a lot more evidence published, that telomere length prior to lung transplantation may predict complications that are preventable.”

Dr Armanios told the limbic she worried about the lag in implementing molecular evidence in ILD.

“In oncology, a long time ago, we started to group diseases by molecular changes in the cancer, rather than how they look under the microscope. So the classic examples are cancers that have the Philadelphia chromosome or the BCR-ABL translocation. And now all those cancers are not defined by where they start or how they look but they are called BCR-ABL positive cancers.”

“So in the old days we used to have these arguments about but how many biopsies should you have, what sampling biopsy, what are the inter-pathology differences in terms of reading, but now we just do the molecular tests and those patients are all eligible for these treatments.”

“I see that happening one day for these IIPs because the classification is so confusing between HP and IPF and it turns out there is evidence it doesn’t matter. If you can find a genetic diagnosis, especially as it relates to telomerase and these other telomere genes, these patients behave identically over time. They share more in common even though under the microscope they might look different.”

Dr Armanios told the meeting that it takes about 30 years from gene identification to providing a treatment. For example, from 1983 to 2012 to find and approve a CFTR modulator; from 1966, when Lynch syndrome was first described, to 2017 to approve pembrolizumab for all cancers with a MMR deficiency.

In the interim, health professionals should ensure the molecular medicine perspective was incorporated into multidisciplinary IPF teams and guideline development, mitigate gaps in training, and ensure resources were available for patients and families such as genetic counseling.

She said about 20% of IPF patients would have a family member affected – compared to just 5-10% of breast cancer patients.

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