GenePod: GIM's Podcast

Tune in here for the below episodes:  iTunes,  Google Podcasts, Overcast, RSS Feed, or SoundCloud.

December: Can the use of genetic testing improve the cardiovascular health of adults?
As cardiovascular disease has many known genetic components, a team of researchers at Baylor College of Medicine created a panel of genes associated with cardiovascular disease they call HeartCare. David Murdock, previously the assistant director of the clinical lab at Baylor College of Medicine’s Human Genome Sequencing Center and now a lab director at Invitae, states “we thought that by looking at genetic causes of cardiovascular disease in an adult population, that could really help us to push forward genetic testing in adults in general”.

On this month’s GenePod, David Murdock and Eric Venner, director of clinical informatics at Baylor College of Medicine’s Human Genome Sequencing Center, discuss results and implications of the HeartCare gene panel testing of over 700 individuals from Baylor cardiology clinics. (Related Article) Download (.mp3)

November: The potential impact of a PRS-based breast cancer risk assessment
Polygenic risk scores (PRS) can be an important tool in breast cancer patients to help stratify individuals into levels of disease risk. The clinical utility of PRS is still being evaluated, but what hasn't yet been evaluated is how to communicate such results to patients, and how they respond to their PRS scores.

On this month’s GenePod, Tatiane Yanes, a post-doctoral researcher at the University of Queensland and a genetic counselor at the Queensland Children’s Hospital, discusses how a team of researchers surveyed an existing pool of patients that had undergone genetic testing for breast cancer.  “We're really just trying to get an understanding of how someone might respond to receiving this information, and what sort of decisions they might make around their breast cancer risk management”, said Yanes. (Related Article) Download (.mp3)

October: Where are therapeutics succeeding and where is more research needed to target the mechanism for genetic disorders?
Researchers are still laying the groundwork in the search for therapeutics that target the mechanism for genetic disorders leading to new treatments. On this month’s GenePod, authors of two recently published articles in Genetics in Medicine discuss where trials for such molecules are succeeding and where there is still more research to be done to determine the efficacy and safety of new treatments.

Ravi Savarirayan, professor of genetics at the Murdoch Children’s Research Institute discusses the long-term study of vosoritide – the first drug to be approved to treat achondroplasia in Europe with ongoing FDA review in the United States. 

Maxime Luu, at the University Hospital of Dijon, explains why a trial to treat PIK3CA overgrowth spectrum (PROS) with the breast cancer drug taselisib was halted and, nevertheless, how this promising line of research may proceed in the future.

Please see here for articles discussed in this episode: 1 and 2. Download (.mp3)

September: Team of experts creates ACMG’s first evidence-based clinical guideline recommending exome or genome sequencing for pediatric patients with congenital anomalies or intellectual disability
Congenital anomalies (CA), developmental delay (DD), and intellectual disability (ID) are among the most common indicators in children that lead to genetic testing. Identification of an underlying diagnosis for CA or DD/ID can be consequential to care management and long-term prognosis for the child. But there has been no evidence-based guideline for clinicians to refer to that supports the use of exome or genome sequencing as a first-line or second-line test for the evaluation of pediatric patients with CA or DD/ID. 

On this month’s GenePod, Fuki Hisama, MD, FACMG, FAAN and Murugu Manickam, MD, FACMG, who co-chaired the American College of Medical Genetics and Genomics (ACMG) evidence-based work group, discuss how a team of experts was brought together to provide the ACMG’s first ever evidence-based clinical guideline. This guideline lays out clear recommendations for use of exome or genome sequencing in clinical care to optimize outcomes for pediatric patients with CA or DD/ID. “In a way, this model of an evidence-based guideline is creating the standard and a template for future studies” says Dr. Manickam. (Related Article) Download (.mp3)

August: Diagnosing the undiagnosed: Genetic testing identifies the underlying causes of kidney disease
Identifying the underlying genetic cause of kidney failure in patients awaiting transplant can impact donor choice and lead to changes in management and treatment. On this month’s GenePod, Eva Schrezenmeier at Charité-Universitätsmedizin Berlin and Carsten Bergmann at Medizinische Genetik Mainz and University Hospital Freiburg, discuss how genetic testing can identify a diagnosis for patients with kidney failure who are waitlisted for a kidney transplant. (Related Article) Download (.mp3)

July: Artificial intelligence may provide a timely diagnosis for Fragile X syndrome
While Fragile X syndrome is the most common cause of inherited intellectual disability, it is still underdiagnosed in the general population. As the phenotype may be subtle, the diagnostic pathway can take years. In addition to this, the syndrome is accompanied by many secondary health conditions — the full spectrum of which are not entirely understood by medical practitioners — adding to the burden of care for patients and families.

On this month’s GenePod, Arezoo Movaghar, PhD, a post-doc in the Waisman Center at the University of Wisconsin-Madison, and Marsha Mailick, PhD, emeritus vice chancellor for research and graduate education at the University of Wisconsin-Madison, discuss the use of artificial intelligence to both identify the prevalence and severity of secondary medical conditions and to accurately diagnose patients years in advance of a typical clinical diagnosis. (Related Article) Download (.mp3)

June: Universal newborn screening to identify pediatric cancer predisposition – could it work?
Universal newborn screening has been successful at improving treatment and decreasing morbidity and mortality for a number of childhood diseases. Recently, a team of researchers investigated the utility of newborn screening for rare genetic pediatric cancer syndromes. Knowing whether a newborn has a genetic variant strongly associated with pediatric cancer predisposition syndromes can potentially lead to focused surveillance of these infants, improved management, better health outcomes, and may even be cost-effective. On this month’s GenePod, Lisa Diller, MD, professor of pediatrics at Harvard Medical School and vice chair of pediatric oncology at the Dana Farber Cancer Institute, and Jennifer Yeh, PhD, assistant professor of pediatrics at Harvard Medical School, discuss their model-based universal screening program to answer questions about potential benefits, costs, and risks of universal newborn screening for pediatric cancer predisposition syndromes. (Related Article) Download (.mp3)

May: The implementation of clinical genomic DNA methylation testing in patients with rare disorders
All too often, genomic testing in patients with undiagnosed disorders results in the finding of variants of unknown significance (VUS). This leaves the health-care provider and patient in a quandary, not knowing whether that variant is disease causing or not. On this month’s GenePod, Bekim Sadikovic, PhD, director of the Clinical Genomic Center and head of the molecular diagnostics program at Canada’s Western University, discusses the implementation of genomic DNA methylation testing in patients with rare disorders – a diagnostic tool that may help sort out the impact of VUS by identifying the signals of DNA methylation. (Related Article) Download (.mp3)

April: Increasing access to genomic medicine in diverse communities: What shapes Latinx perspectives on health care incorporating genomics?
A lack of research on how diverse communities experience genomic medicine and integrate genetic knowledge into their understanding of and decision making around health care has led to disparities in access and utilization of genomic medicine among minority populations. “The data that's been available historically all points in the direction of suggesting that there's going to be substantial hesitance among patients in taking up new forms of genetic testing and that hesitance is rooted in historical worries”, states Dr. Richard Sharp, director of the Biomedical Ethics Research Program at the Mayo Clinic in  Rochester, Minnesota.

On this month’s GenePod, Dr. Sharp and Valentina Hernandez, director of integrated nutrition services and collaborative research for Mountain Park Health Center discuss the results of a survey of both Latinx and non-Latinx patients that assessed their decision to pursue genomic risk evaluation in an effort to address this research gap. Tune in! (Related Article) Download (.mp3)

March: Turning principles into policy: Combating systemic racism in genetics and genomics publications
The field of medical genetics and genomics has a complex and troubling history vis-a-vis racist ideologies—Carl Linnaeus divided humanity into four “varieties” and Charles Darwin saw humans as genetically distinct races. And, although the field has come a long way since its beginnings, systemic racism lingers in its institutions and practices. On this month’s GenePod, Genetics in Medicine editors Kyle Brothers, MD, PhD, Robin Bennett, MS, CGC, and Mildred Cho, PhD, discuss the work that must be done to start addressing the eradication of systemic racism from scientific publishing. The authors propose eight principles that are both scientifically grounded and anti-racist in an effort to provide a foundation for enlightened policy development by publishers and editorial boards in genetics and genomics. Tune in! (Related Article) Download (.mp3)

February: Targeted exome sequencing for second-tier newborn screening tests: technology to scale
In newborn screening tests, after a first-tier abnormal screening result, single gene or multi-gene testing panels are often utilized as second- or third-tier tests. However, the technologies typically employed today do not scale well and this is a real problem for the high-volume rapid throughput nature of newborn screening labs. On this month’s GenePod, Drs. Nicole Ruiz-Shultz and Andreas Rohrwasser of the Utah Public Health Laboratory discuss how they tested targeted exome sequencing, which focuses analysis on the most relevant subset of genes. Tune in! (Related Article) Download (.mp3)

January: Is newborn screening for metachromatic leukodystrophy coming soon?
While newborn screening is gradually expanding in many states in the U.S. and other countries to include some members of a class of diseases known as lysosomal storage diseases (LSD), there has yet to be a screening test available for one LSD called metachromatic leukodystrophy (MLD). MLD is a rare neurogenetic condition that is often fatal and there is currently no widely available approved treatment. However, there are a number of promising therapies under development in ongoing clinical trials. Michael H. Gelb, PhD, professor of chemistry and biochemistry at the University of Washington, recently turned his attention to developing a newborn screening test for MLD, which he discusses on this month’s GenePod. Based on the results of more than 27,000 newborns screened for this study, Dr. Gelb believes that a newborn screening test for MLD, upon completion of a second unblinded prospective study, could soon become part of the Federal Recommended Uniform Screening Panel. Tune in! (Related Article) Download (.mp3)