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.   See acast.com/privacy for privacy and opt-out information.

Genepod

Diagnosing the undiagnosed: Genetic testing identifies the underlying causes of kidney disease

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.  See acast.com/privacy for privacy and opt-out information.

Artificial intelligence may provide a timely diagnosis for Fragile X syndrome

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.  See acast.com/privacy for privacy and opt-out information.

Universal newborn screening to identify pediatric cancer predisposition – could it work?

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.   See acast.com/privacy for privacy and opt-out information.

The implementation of clinical genomic DNA methylation testing in patients with rare disorders

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.  See acast.com/privacy for privacy and opt-out information.

Increasing access to genomic medicine in diverse communities: What shapes Latinx perspectives on health care incorporating genomics?

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.    See acast.com/privacy for privacy and opt-out information.

Turning principles into policy: Combating systemic racism in genetics and genomics publications

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.   See acast.com/privacy for privacy and opt-out information.

Targeted exome sequencing for second-tier newborn screening tests: technology to scale

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.  See acast.com/privacy for privacy and opt-out information.

Is newborn screening for metachromatic leukodystrophy coming soon?

Barth syndrome, an exceedingly rare genetic condition that affects only males, causes heart disease and immune deficiencies–and there’s no known treatment that addresses the cause of the disease. On this month’s GenePod, Hilary Vernon, MD, PhD, associate professor of genetic medicine at Johns Hopkins University School of Medicine, describes a study of elamipretide, a compound already under clinical investigation that, based on its effectiveness in targeting mitochondria, she and her colleagues thought might help their Barth syndrome patients. Based on the results of the study, Dr. Vernon says elamipretide could become the primary treatment for Barth syndrome.  See acast.com/privacy for privacy and opt-out information.

Elamipretide: A treatment for Barth syndrome

Could genome sequencing be used to prospectively identify people at high risk for having a genetic disorder? And, could this enable early multidisciplinary care and avoid life-threatening events? On this month’s GenePod, Bruce D. Gelb, MD, director of the Mindich Child Health and Development Institute at Mount Sinai’s Icahn School of Medicine, describes the genotype-first approach his team took. Dr. Gelb and his team used biobanks to identify individuals with variants likely causing heart conditions associated with RASopathies or Marfan syndrome. The team then went to the electronic health records of those individuals to determine if they had been diagnosed; many had not! Furthermore, identifying individuals by genotype first yielded new insights into their phenotypes.  See acast.com/privacy for privacy and opt-out information.

Exploring a genotype-first approach for genetic variants that influence cardiac diseases

Specialty clinics are an exceptional resource, but research has shown that 95% of those with Down syndrome lack direct access to a Down syndrome specialty clinic. Yet, those with Down syndrome are more likely to be up-to-date with health-care guidelines if their caregivers have access to an online health-care tool. On this month’s GenePod, Brian Skotko, MD, MPP, director of the Down Syndrome Program at MassGeneral Hospital for Children discusses a web-based tool that dramatically improved patients’ likelihood of being up-to-date on Down syndrome health-care guidelines.   See acast.com/privacy for privacy and opt-out information.

Online Access to Down syndrome Health-Care Tool

A history of distrust and skepticism surrounds genetics research for Alaska Native tribes. Not having tribal health organizations engaged with genetics research in a meaningful way means Alaska Native people are missing out on benefits from discoveries that come out of research. On this month’s GenePod, Denise Dillard, PhD, director of research for South Central Foundation, a tribal healthcare organization, discusses the goals behind facilitating a workshop between Alaska tribal leadership, biomedical researchers, and representatives from the National Institutes of Health (NIH) and Centers for Disease Control and Prevention (CDC). The key takeaways from the workshop build upon ways to overcome barriers and address the need to form more effective partnerships. Tune in!  See acast.com/privacy for privacy and opt-out information.

How to overcome barriers and meaningfully engage Alaska Native tribes and tribal health organizations in genomic research

Genetic and genomic information is a powerful tool in personalized medical care. It is essential for both diagnostic purposes and medical management. But when it comes to genetic test results, electronic health records (EHRs) are generally not searchable or standardized. Tune in to this month’s GenePod, Genetics in Medicine’s monthly podcast, to hear co-authors Dr. Theresa Grebe, a clinical geneticist at Phoenix Children’s Hospital, and Dr. Marc Williams, director emeritus of the Genomic Medicine Institute at Geisinger, discuss ACMG’s recent points to consider statement from the ACMG on the interface of genomic information with the EHR and how to optimize EHRs for genomic medicine.  See acast.com/privacy for privacy and opt-out information.

A Discussion of ACMG’s Recent Guidance on the Integration of Genomic Information into the EHR

The COVID-19 pandemic is unprecedented and clinicians have faced correspondingly unprecedented challenges in caring for patients in genetics and metabolic disease clinics who require routine check-ups and ongoing treatments. Yet, in overcoming these challenges, doctors have identified a few boons to patient care that may continue to benefit patients in the long run. Listen in to this month’s GenePod to hear how Dr. Nicola Brunetti-Pierri, a clinician at the Federico II University Hospital in Naples, Italy, and Dr. Elaine Pereira, a clinical geneticist at Columbia University in New York City, two of the areas hardest hit by the pandemic, adapted patient care amid government lock-downs and what silver linings they found.   See acast.com/privacy for privacy and opt-out information.

COVID-19 presents challenges for care of patients in genetics and metabolic disease clinics

In this month’s podcast, Genetics in Medicine reached out to members of the genetics research community involved in the global initiatives to identify the genes that cause differences in susceptibility and outcomes to COVID-19: Mark Daly, PhD, director for the Institute of Molecular Medicine Finland and a member of the Broad Institute in Massachusetts, Kári Stefánsson, MD, founder and CEO of deCODE, and our own Deputy Editor, David T. Miller, MD, PhD, a medical geneticist at Boston Children’s Hospital. Together, these three discuss key methods involved in conducting genome-wide studies on a global level to understand differences in SARS-CoV-2 infection rate and severity. The hope is, these efforts will be vital for providing clues to pathways of viral infection and ultimately development of therapeutics and vaccines.    See acast.com/privacy for privacy and opt-out information.

International collaborations aim to provide genetic clues to COVID-19’s variable disease path and outcomes

Genepod is the podcast from the journal Genetics in Medicine, produced in association with Nature Publishing Group. Join us as we delve into the latest research in medical genetics and genomics, featuring highlighted content from this leading journal.

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Genepod

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