CURE - Blog

September 2021 Support Group Meeting (Webinar)

9/1/2021

When: Saturday 04 September 2021 10:30AM – 11:15AM PT

Where: Via Zoom (Email [email protected] to receive webinar link)

Speakers: Dr. Friedman and Dr. Wigby Rady Children’s Institute
for Genomic Medicine
Rare Disease in General and Precision Medicine Clinic

Support Group Meeting Notes (May 8, 2021)

5/10/2021

Presentation by The Broad Institute

Presenters:

Melanie O’Leary, MS, CGC, Rare Genomes Project, Broad Institute of Harvard and MIT
Brian Mangilog, Clinical Project Coordinator, Rare Genomes Project

One resource to reference:

RGP CURE talk.pptx

Notes: Doesn’t require a physician referral. Offer WGS though only in the U.S. right now. There is an on-line application or call-in. They have a partnership with Quest Diagnostics.

Support Group Meeting Notes (Nov 7, 2020)

11/9/2020

Presentation by Dr. Farnaes

Presenter:
Dr. Lauge Farnaes, Head of Medical Affairs, IDbyDNA and affiliated with the Rady Children’s Institute for genomic medicine

One resource to reference:

Transforming inpatient children’s outcomes by rapid precision medicine .ppt

July 2020 Support Group Meeting (Webinar)

7/26/2020

When: Monday July 27, 2020, 11AM - 12PM PT
Where: Via Webinar (Email [email protected] to receive webinar link)

Katie Golden-Grant, MS, LGC Research Genetic Counselor Lead, University of Washington

MyGene2 and UDN: The Value of Genetic Data Sharing

Support Group Meeting Notes (November 9, 2019)

2/28/2020

November 2019 Support Group Meeting

9/16/2019

When: Saturday November 9, 2019, 2-5PM
Where: Ronald McDonald House 2929 Children's Way San Diego, CA 92123

Nicole Coufal, MD PhD, Pediatric Critical Care, Assistant Professor, University of California, San Diego and Rady Children's Hospital

Unraveling Unknown Neurological Diseases

Genetic Testing Advancements and Opportunities within Rare, Undiagnosed, and Genetic Disease (Meeting Feb. 3 2018)

2/22/2018

Molly McGinniss, MS, LCGC Genetic Counselor and Senior Market Development Manager, Illumina

February 2018 Support Group Meeting

1/29/2018

When: Saturday 3 February 2018, 2-5PM
Where: Ronald McDonald House 2929 Children's Way San Diego, CA 92123

Molly McGinniss, MS, LCGC Genetic Counselor and Senior Market Development Manager, Illumina

Genetic Testing During the Diagnostic Odyssey - Alicia Scocchia, Genetic Counselor, Illumina (Meeting 4 February, 2017)

2/15/2017

Meeting Notes

Genetic testing looks for variants or changes in the DNA that may or may not be disease causing.
Results of genetic testing involve both sequencing and interpretation:
1. Sequencing: Reading the letters of the DNA and putting them in order
2. Interpretation: Gathering and reporting evidence about what the letters mean in the context of human disease
Not all rare diseases are genetic; although a lot of genetic diseases are rare!
There are many different genetic testing options:
1. Karyotype and microarray tests look at structure of the chromosomes (condensed DNA).
2. Exome sequencing zooms in to look at smaller variants. Although the exome is estimated to be only 1-2% of the whole genome, variants in exome are thought to be the most common causes of human genetic conditions.
3. Genome sequencing has the ability to look at the structure of the DNA and smaller variants in the exome and beyond. At this point in time, the interpretation of genome sequencing is a lot like receiving an exome sequencing test + a microarray.
4. Exome and genome tests which have a primary goal of aiding in the diagnosis of rare disease are most helpful when other members of the family are available to participate in the analyses as well (ex: trio analysis with mom, dad, and child).
5. Different laboratories/studies will give back different findings, including a clinically significant findings, research candidates, secondary findings, and others. Some laboratories will give back data files, including or VCF (organized raw data, transferrable to most other laboratories) BAM (raw data, only transferrable to laboratories with a comparable workflow). These data files are most helpful to other laboratories which have the processes, software, and expertise in place to re-analyze the data.
Genetic testing for use during the diagnostic process is very dynamic process:
1. Though the science and technology behind genome sequencing has advanced quickly, we are still learning a lot about the significance of variants in the genome every day.
2. There is dynamic interpretation of results over time as new information on genes and mechanisms of diseases are gathered within the scientific community.
3. Resequencing is the process of reading the letters in the DNA again. This may or may not require a new sample. We expect the vast majority of a sequence to be the same during resequencing. Resequencing is most helpful to a family when sequencing technology changes and new technology may identify more candidate variants for interpretation.
4. Reanalysis/reinterpretation is the process of further researching a candidate variant to see if more information is available which supports a change of variant classification. This is most helpful as new various groups contribute more data into the scientific community about gene function and mechanism of diseases.
The iHope Program at Illumina partners with clinicians and clinical organizations to offer whole genome sequencing and interpretation at no cost to families. The best way for a family to submit an application is through Rare Genomics Inc. (an iHope clinical partner) online at http://www.raregenomics.org/ihope/.

Resource
"Free Clinical Whole Genome Sequencing to Children with Undiagnosed Genetic Diseases"
http://www.raregenomics.org/ihope/

Spring 2017 Support Group Meeting

11/28/2016

When: Saturday 4 February 2017, 2-5PM
Where: Ronald McDonald House 2929 Children's Way San Diego, CA 92123

Alicia Scocchia and Erin Thorpe, Genetic Counselors from Illumina will talk about the use of genomic- based testing during the diagnostic Odyssey.