The American Society of Human Genetics (ASHG) 2017 Annual Meeting took place over five days (17th -21st October) in Orlando, FL. Encompassing all levels and aspects of the industry from pure research to commercial start-ups, scientists from across the globe heard talks, took part in discussions and networked with fellow geneticists. The Society also announced its annual prize winners and introduced a number of leading geneticists from the developing world.

The biggest name of the week was that of Microsoft co-founder and trustee of the Bill & Melinda Gates Foundation, Bill Gates, who spoke with Francis Collins, Director of the US National Institutes of Health, at this year’s Presidential Symposium. The 90 minute discussion took place on the Wednesday night and was the most popular event of the week by far, attracting 32,000 viewers online and most of the 7479 attendees.

Peter C. Scarcheri, PhD and chair of the ASHG 2017 program committee said: “We are excited to engage with Dr. Collins and Mr. Gates on the latest breakthroughs, efforts and challenges in our field as well as explore future opportunities.”

The Gates Foundation has pledged tens of millions of dollars to support genomics and healthcare in the developing. Some of the money has gone directly into projects overseas focused on matters including farming and animal health, epidemic containment and identification such as with the 2014 west Africa ebola outbreak and disease prevention in sub-Saharan Africa.

ASHG also uses its annual meeting to recognise research taking place around the world that will significantly impact the industry. Amongst this year's prize winners were scientists working on new breakthroughs in the use of personal omics in precision and preventative medicine, and the molecular causes behind ciliary disorders, as well as a plethora of other exciting projects.

Dr. Matt Hurles of the Sanger Institute in Cambridge, UK spoke about his pioneering work with the Deciphering Developmental Disorders project (DDD) which recruited 12,000 patients with developmental delay for array comparative genomic hybridisation analysis and exome sequencing. The interpretation and understanding of this data has had far reaching impact in the industry.

Cambridge based clinical genomics analysis company Congenica welcomed speakers from some of the world’s leading genomics markets at their exhibitor symposium: ‘Impacting Clinical Diagnostics Using Rapid and Accurate Whole Exome Analysis’. Each of the talks reflected the global reach, influence and application of their gold standard clinical genomics analysis platform, Sapientia.

Dr. Yuan Yuan Fu, Clinical Scientist at Fuwai Hospital, Beijing has been using Sapientia to analyse the whole exome sequence (WES) data from cardiovascular patients in the Chinese capital. Her presentation focused on two case studies. The first of an 18 year old man who was diagnosed with de novo dilated cardiomyopathy after his WES data was analysed.

The second case study focused on a more complex condition that was initially suspected to be Marfan Syndrome (MFS), due to the patient's phenotypic symptoms and tall stature. They first looked at using aortopathy and multiplex ligation-dependent probe amplification (MPLA) testing for FBN1 and TGFBR2 genes but both of these were negative. WES was applied and Sapientia was used to analyse the results, which discovered a CBS gene mutation with autosomal recessive inheritance and phenotypes similar to MFS, but was in fact the far rarer homocystinuria. Without Sapientia, the diagnostic odyssey to accurately identify this variant would be extremely long - if it was completed at all - using traditional methods.

From the New York Genome Center (one of America’s leading not for profit genomics research institutes), came Dr. Avinash Abhyankar. He told the story of a family who had lost a child at 15 months of age without receiving a diagnosis. Two years on the couple were planning to try for another baby. The only tissue sample available from the child was a dried blood spot, which was used to run WES. The results were analysed with Sapientia and variants prioritised to produce the resulting diagnosis of ASNS Deficiency - a severe neurological disorder that shows its onset in-utero or at birth.

From Britain’s world famous Great Ormond Street Hospital for Children came Senior Clinical Scientist, Dr Natalie Chandler, who works to provide and expand prenatal clinical diagnostic services in a range of rare paediatric specialities. The centre dealt with over 30,000 samples during the 2016-2017 period, in particular non-invasive prenatal diagnosis (NIPD) and fetal exomes. The centre uses Sapientia to provide rapid trio clinical exome sequencing analysis using an exomiser to prioritise variants within the panel and rank how the gene fits with the human phenotype ontology (HPO) terms.

A case study was shown of a patient who presented for a scan at 24 weeks of gestation. Sapientia was used and the variant was identified and classified as clearly pathogenic. The time from referral to a diagnosis of 3M Syndrome was just 12 days.

Over the week attendees heard from many exciting and fascinating speakers, from national projects to niche specialisations and open source data sharing.

MyGene2 caught many people’s attention with what they described as, ‘a web platform for radically open data sharing that’s free, public and searchable to empower undiagnosed patients to leverage and share clinical research sequence data’, in their presentation.

A number of different national programmes were presented, Australia, Japan and Qatar and also breakthroughs in how people share data. The Broad Institute’s Heidi Rehm spoke out about the need to create a comprehensive international data base: “I look forward to a time when we have deciphered all the causes of disorders with a genetic basis and are able to effectively treat, manage and often prevent the morbidity and mortality associated with rare disease. My favourite part of this is watching how quickly we are making a difference to the lives of patients.”