Digital Tools for Pedigree Drawing and Advances in Prenatal Testing

We are in the final days to sign up to our Patreon to still be eligible for our bonus physical gift, DNA Today merch! This is on top of the annual physical gift you will get if you end up picking our Chromies tier level. And yes I had a ton of fun coming up with the tier names. The top merch asked for by listeners are t-shirts, mugs, stickers, thermoses, and lanyards (mostly to wear during conferences). By becoming a patron you can influence which physical gift we end up picking and you will get your very own! Plus I am going to throw in a handwritten letter as a thank you for supporting the show. Of course there are tons of other benefits, but I know this is one that is very exciting for many listeners. The show has been around 10 years so it’s about time we have merch available! 

Shoutout to our new Patreons Molly, Emily, Cristina, Wesley , Hannah, Amanda, Lynn, Ashlyn, and Sanya! Join our Patreon community here. If you sign up by May 25th I will throw in an extra gift in the mail for you! 

This week Michelle Bowman, a cancer genetic counselor from Sydney, Australia, joins us for a conversation on how to utilize digital tools to reach patients who can benefit from cancer genetic counseling. 

Michelle Bowman (she/her), has been a practicing cancer genetic counselor at Western Sydney Local Health District for over 15 years. Michelle is interested in diversity, equity, inclusion and justice issues in health care and genetics, and she is also interested in emerging models of care and eHealth. Michelle holds a committee membership at eHealth NSW, which is NSW Health’s digital centre of excellence. She received her graduate degree in genetic counseling from the University of Melbourne.

• How medical and genetic systems are different between countries
• New and emerging models of care and eHealth technologies that are transforming the field of cancer genetic counseling
• How digital tools can be utilized to reach patients who may not have access to traditional in-person genetic counseling services, particularly in rural or underserved areas
• Using digital pedigree software (like TrakGene) to help address some of the challenges in providing accessible care to diverse patient populations, particularly those with complex family histories or limited access to traditional healthcare services
• Improving the accuracy and completeness of family health history data with digital pedigree software and the benefits this offers for patient care
• How digital pedigree software can help to promote health equity and reduce health disparities among diverse patient populations
• Challenges and benefits of incorporating these digital tools into the genetic counseling process
• How eHealth tools can be used to improve patient education and increase patient engagement in the genetic counseling process
• Ensuring that these new approaches to genetic counseling are accessible and equitable for all patients, regardless of their socio-economic status or geographic location
• Advice for patients who are considering genetic counseling and how they can best utilize the resources available to them, whether in-person or through digital platforms

The Centre for Genetics Education has many great resources including the Genetic Service Finder for Australia with their list of services. Public and private providers are listed on the Human Genetics Society of Australasia’s website. Check out the life insurance products she mentioned. Here are the EviQ Referral guidelines for cancer genetics she also referenced. Michelle recommends this paper about genetic testing for ovarian cancer. 

You can follow our guest, Michelle Bowman on ​LinkedIn.

Stay tuned for the next new episode of DNA Today on May 26th, 2023, where we’ll be discussing ​​secondary findings with BRCA! New episodes are released every Friday. In the meantime, you can binge over 235 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  

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TrakGene has designed a genetics electronic health record. Here’s what it features: pedigrees, demographic data, genetics information, risk tools, and sophisticated reporting, all within a clinician designed workflow. It integrates within other clinical genetic software, databases, and hospital information systems to maintain accurate patient records. You can learn more in Episodes 208 and 210 of DNA Today! Use Promo code “DNATODAY” to get $800 off your subscription. That’s a discount of 80% exclusively to DNA Today listeners. Go redeem this special offer at Trakgene.com. (Sponsored) 

As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. Listen to DNA Today Episode #224 Single Gene NIPT and #225 Fetal Antigen NIPT. (Sponsored) 

Did you know that among patients with documented mild cognitive decline, about one-third progress to a diagnosis of Alzhiemer’s Disease? As the Alzheimer’s and dementia field evolves, new diagnostics are being developed working to provide answers in more and more accessible ways. Quest Diagnostics is leading the way in making Alzheimer's testing accessible through assessing biomarkers like ApoE isoforms and Beta-Amyloid plaques with blood instead of spinal fluid. Learn more about Alzheimer's Disease including Quest Diagnostics’s newest risk assessments in DNA Today’s Episode 236. You can use this link to learn more about Quest’s tests. (Sponsored)