Clinical Validation of a Next Generation Sequencing Panel Test for Hereditary Colorectal Cancer

Application of next generation sequencing (NGS) is revolutionizing the clinical molecular diagnostics industry. As this occurs, guidelines for validating NGS processes are limited, non-specific, and rapidly evolving.

NGS validation projects are complex and expensive, so the validation experiments must be carefully considered, while being certain all current and evolving regulatory requirements are met.

We validated an end-to-end genetic testing process for a 16-gene hereditary colorectal cancer NGS panel. Global work flow was designed to provide high quality sequencing data for 100% of our targeted regions.

PDF LINK

Brazilian Healthcare Establishments gearing up for Palliative care for the Cancer Patients

Out of 1.1 million deaths recorded each year in Brazil, 15.9 % of them are cancer deaths. 4.5 million People were hospitalized with cancer in Brazil during 2008-2014 and 24.6% of them are cases admitted due to recurrence.

In an average 8% of the patients are dying while in the hospital and 21.4% of them are approaching hospitals for clinical intercurrence of cancer. As per the WHO recommendations, 85% of the cancer affected need Palliative care. Yet, Brazilian health establishments are not well equipped to offer them.

They need specialized assistance in the oncology and the authorities are gearing up to estimate resources at their end to tailor a suitable programme for cancer patients.

PDF LINK

Promoting Palliative Care to Cancer Patients in the Republic of Kazakhstan

The 400-Year Quest for a Good Death , [1] Harold Vanderpool traces the emergence of medical palliation to a proclamation by Sir Francis Bacon in 1605 challenging physicians to offer and continually improve palliative medical care and treatment for dying persons.

Florence Nightingale also contributed significantly to the evolution of what we call palliative care today, although the period of 1895 to 1959 – a time of great advances in medicine – unfortunately led to less appropriate care for the dying, though it contributed to discussions about the ethics of treating the dying. The following period (1960-1981) is described as a time of momentous transition.

The influence of Elisabeth Kübler-Ross and Cicely Saunders emerged, solidifying palliative care concepts in the US and UK, and thereafter worldwide. In 2015 the WHO added palliative care to its family of factsheets for the first time. To date, however, palliative care is largely absent from the global health dialogue and consequently is not practiced in most of the developing world, even though cancer is a leading cause of morbidity and mortality worldwide.

PDF LINK

Plasma Concentration of Oxycodone and Pain during Hemodialysis in a Patient with Cancer

A 55-year-old man with a history of lung cancer, liver metastasis, a liver abscess, and glomerulonephritis (RPGN) associated with methicillin-resistant Staphylococcus aureus (MRSA) infection presented at our department. He underwent a right upper lobectomy, with resection of the parietal pleura, for right lung cancer. He had a recurrence of the cancer, liver metastasis, and a liver abscess postoperatively, and was treated via a left hepatic lobectomy for the metastastic liver tumor. Oxycodone (Oxycontin®; 80 mg/day) was used to treat severe pain in his right chest.

He didn’t receive drugs which influence the metabolism of oxycodone such as CYP3A4 and CYP2D6 inhibitors and inducers. Elevated serum creatinine, proteinuria, and hematuria indicated glomerulonephritis-induced renal failure. He then presented at our department for pain control during hemodialysis.He presented to us with pain in his right chest, right back, and right arm. The right chest and back pain were intermittent sharp pains, and localized in his right precordia and around his scapula.

The maximum, minimum, and average pain scores based on the 0–10 numeric rating scale (NRS) were 4/10, 2/10 and 2/10 respectively. Neither neurological disturbances, hypaesthesia, nor listlessness was identified, and the douleur neuropathique 4 questions (DN4) score was a 0/10. We therefore diagnosed these right chest and back pains as somatalgia. However, the right arm pain was continuous and intermittent, relatively sharp, and localized in the area supplied by the ulnar nerve. No shooting pain was identified.

PDF LINK