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denadna

Dena Goldberg, MS, CGC

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Genetic Counselor spreading 🧬 awareness & making it more accessible to all

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Ethics

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Rare Disease

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Cancer

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Medical Testing

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Genetic Counseling

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Basic Genetics

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Consanguinity is being descended from a common #ancestor. In genetics, a consanguineous marriage is defined as a union between 2 individuals who are second cousins or closer.  The #Targaryen family from #GameofThrones & #HouseoftheDragon is a strong example. #Consanguinity is actually quite common & practiced worldwide today. It’s a “deeply rooted social trend among one-fifth of the world population mostly residing in the Middle East, West Asia & North Africa, as well as among emigrants from these communities now residing in North America, Europe and Australia.” (Hamamy 2011) created by Dena Goldberg, MS, CGC with Dena Goldberg, MS, CGC’s original sound
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Consanguinity is being descended from a common #ancestor . In genetics, a consanguineous marriage is defined as a union between 2 individuals who are second cousins or closer.
The #Targaryen family from #GameofThrones & #HouseoftheDragon is a strong example. #Consanguinity is actually quite common & practiced worldwide today. It’s a “deeply rooted social trend among one-fifth of the world population mostly residing in the Middle East, West Asia & North Africa, as well as among emigrants from these communities now residing in North America, Europe and Australia.” (Hamamy 2011)
With the @SADS Foundation , let’s break down why knowing your specific genetic variant (mutation) is key:

👩‍⚕️ Right Treatment: Tailor-made care just for you
👨‍👩‍👧‍👦 Family Checks: Helps us understand the risk to your loved ones
🔬 Research Boost: Join studies that make a difference

Researchers need this information to:
📚 Understand Disease: How it starts and progresses
💊 Develop Treatments: Create better ways to treat & beat it

Gene therapy? It's all about targeting:
🎯 Specific Mutations: Treatments that hit the health issue right where it starts

Get the right info, get the right care, and power up the science to beat genetic heart conditions. Dive in deeper at StopSADS.org. 

#DecodeYourGenes #SADSFoundation #HealthTok #GeneTherapy
📋This year I’ve created a 2-page PDF guide for you to get the conversation started. Go to DenaDNA.com and click on freebies or click the link in my bio.

It’s almost Thanksgiving, and in 2004, the U.S. Surgeon General declared it as National Family History Day as well. Since this is a time we tend to gather with family, it provides a great opportunity to collect your own family health history information.

Here’s what information you should collect and record:

Ask about each relative including children, siblings, parents, aunts, uncles, grandparents, grandchildren, and cousins, living and deceased.

For each of these relatives, record
* Current age or age they passed away
* If deceased, record the cause of death
* Any current or past health issues & the age each health issue started/was found (sample issues provided in video)
* Any birth defects, learning problems, autism, mental illness
* Any physical traits that seem different from the rest of the family
* General lifestyle information (tobacco & alcohol use, exposure to harmful substances, etc)
* Any pregnancy losses
* Ancestry background
* Any previous genetic testing results

Share this information with your doctor or a genetic counselor to discuss your personal risk for disease and enjoy your time with family and friends!  

#familyhealth #familyhealthhistory #familyhistory #diseaserisk #thanksgiving #thanksgivinggathering #familygathering #familytime #familytalk #geneticcounseling #geneticdisease #nationalfamilyhealthhistoryday #nationalfamilyhistoryday
“What if I told you that the single most important source of information about your future health and your risk of illness, and that of your parents and children, was readily available, provided a window into your genome, was free, and required only an hour or so to collect? It’s our family health history.” -Francis Collins

It’s true, since many diseases are multifactorial, we often use information about your family members’ health history to calculate your risk of disease. Genetic testing can only go so far in predicting future health risk. Without this other information, you aren’t getting a complete picture.

For example, if your parent had colon cancer at age 45, but no genetic change (mutation) was found, we would recommend you start colonoscopy screening at 35 given the family history, and it would be covered by insurance. If you did a genetic test without talking to a specialist, you may not know this.

Of course this isn’t always possible. We know that not all families communicate this information and those who were donor-conceived or adopted may not have any family history information. There are genetic tests now that test for many of the common hereditary conditions that are wonderful for those with no family history information. I love seeing this patients in my clinic! DM me and follow along for more information on these tests coming later this week.

#preventivemedicine  #preventivehealth  #proactivehealth  #preventativecare  #familyhistory  #familyhealthhistory  #familyhealth  #genetictesting  #geneticcounselor  #geneticcounseling
As genetic counselors, we often hear “I look more like my dad, so I must have inherited his mutation” or “I have more of my mom’s genes” etc. These are actually not accurate statements. Here’s why:

Chromosomes are basically packages of genes, aka genetic information. Humans have 46 chromosomes in total, organized into 23 pairs. You inherit approximately half of your genes from your mother and half from your father. Each parent contributes one chromosome to each pair. Therefore, you inherit 23 chromosomes from your mother and 23 chromosomes from your father, resulting in a roughly equal genetic contribution from both parents.

However, it’s important to note that the specific versions of genes you inherit from each parent within those chromosomes can vary, leading to unique combinations of traits and characteristics that make you an individual with a mixture of genetic traits from both sides of your family.

Also, I know the science enthusiasts will come after me if I don’t say this, so here is the exception:
Mitochondrial DNA (mtDNA) is an exception to this rule as you inherit your mtDNA exclusively from your mother. However, mtDNA only has about 37 genes, so compared to the 20-30,000 genes in our nuclear genome, it’s negligible.

#geneticcounseling #InheritanceFacts #Chromosomes
#FamilyGenetics #ScienceFacts #GenomicKnowledge #GeneticsExplained #HumanGenome #DNAInheritance #ScienceEducation #GenomicDiversity #ScienceLovers #GeneticEducation #GeneticCounselor #scicomm
Together with the @SADS Foundation , let’s discuss how medical genetic testing can yield three results. 🧬

➕ A 'positive' means a disease-causing gene variant is found, guiding treatment and family testing. 
➖ A 'negative' indicates all genes tested appear normal. 
❓ A 'Variant of Unknown Significance' (VUS) is inconclusive; most are benign, but they're monitored for changes in classification. 

📞 ✉️ If you had a VUS result, keep in touch with your provider with a simple phone call or email every 1-2 years to ask if your variant has been reclassified and if the panel you had is still comprehensive and up-to-date. 

Genetic testing is part of a broader SADS diagnosis, complementing expert evaluation and additional medical tests. Learn more at StopSADS.org.

#GeneticTesting #HeartHealth #SADSFoundation #KnowYourGenes #PathogenicVariant #VUS  
#GeneticCounseling #InheritedConditions #StopSADS #HeartRhythm #Arrhythmia #SuddenCardiacArrest
Individuals and their family members who have a condition with a genetic link, have a family history of an inherited disease, or are considering genetic testing for any reason can benefit from meeting with a genetic counselor- but how does one even find a genetic counselor?

This infographic highlights 6 ways to find a genetic counselor.

Genetic counselors empower patients and their families with information, guidance and emotional support to help them understand their family history, evaluate genetic testing options, and make informed choices based on test results.

What to expect once you find one:
🧬Genetic counseling appointments vary by specialty, and may take anywhere from 30-90 minutes.
👪 During the appointment, the genetic counselor will draw your family tree, discuss your family history of disease and, if appropriate, discuss genetic testing options or walk you through your genetic test results.
🩺 The genetic counselor will then use this information to help you understand your risk for certain conditions and work with your physician to personalize your medical care.

Follow for more content like this and visit AboutGeneticCounselors.com for more information.

#iamageneticcounselor #genetics  #genetic  #geneticcounselor  #geneticcounselors  #geneticcounsellor  #geneticcounsellors  #geneticcounseling  #geneticcounselling  #genomics  #genetictesting  #genetictest  #dnatest  #dnatesting   #geneticdisorder  #healthcare  #genetica  #geneticdisease #hereditarycancer #raredisease
Population genetic screening is “the process of offering otherwise healthy patients in the general population testing for genomic variants that predispose them to diseases that are clinically actionable, meaning that they can be prevented or mitigated if they are detected early.” (PMID: 35860476)

Population genetic screening initiatives are transforming healthcare and improving our understanding of genetic diseases. We are entering a new era of medicine, where genetic testing is for everyone, uncovering hidden risks and providing lifesaving information. I personally believe that this is where we are all headed, and one day, everyone will have the opportunity to know this information before they develop disease.

Here are some of the current programs revolutionizing our approach to health, breaking down barriers, and paving the way for early intervention and personalized care:

🤝 All of Us Research Program: Open to all through the National Institutes of Health (NIH) to collect and study genetic, environmental, and lifestyle information from one million+ individuals living in the United States.
#AllofUs is committed to recruiting a diverse participant pool that includes members of groups that have been left out of research in the past. You can actually sign up for free on their site.
🤝#HealthyNevadaProject offers ancestry information & no-cost genetic screening for certain hereditary cancers and heart disease risks that are often missed in routine clinical care alone.
🤝Geisinger MyCode (Geisinger Patients)
🤝Genomes2people.org/about has a list of a number of studies

What other programs are out there? Comment to share!

#genetictesting #healthcarerevolution #populationhealth #knowyourgenes #inclusivehealthcare #preventativemedicine #genomics #genomics4all #populationgenetics
Bringing back this classic hit for #breastcancerawarenessmonth 😜 🎤🎧
There are many risk factors for developing breast cancer, but let’s talk about some bug ones: #genetics and #familyhistory . These factors, along with several others, allow your healthcare providers to calculate a more accurate risk assessment to determine if you qualify for extra screening.

But who should get genetic testing? The American Society of Breast Surgeons (ASBrS) recommends genetic testing be offered to ALL patients diagnosed with breast cancer no matter their age, family history or ethnic background. This information can actually change treatment.

The National Comprehensive Cancer Network (NCCN) recommends those with certain patterns in their family history consider genetic testing. A genetic counselor can help determine if you fit this & your insurance will cover it. If testing is not covered by insurance, or if the co-pay is high, the patient-pay rate should never be more than $250 for the entire panel. If your doctor can’t find this price, they should contact the laboratory or you can ask for a referral to a genetic counselor to help you order the best test.

Testing should include all genes associated with breast cancer at minimum (ie: BRCA1, BRCA2, CDH1, PALB2, PTEN, TP53, ATM, CHEK2, STK11 and others) NOT JUST BRCA1 & BRCA2! This is made easy by all of the major genetic testing laboratories providing pre-made panels for breast cancer or multi-cancer risk. (The price is the same no matter how many genes are tested.)

And NO, NONE of this is tested by 23&Me- this should be done with a MEDICAL grade genetic test.

If you want to discuss your risk, you can see me in my clinic (MalibuGenetics.com/pricing) 

Or, To find a genetic counselor near you, visit findageneticcounselor.com or DM me and I can help you.

Alternatively, you can DM me for information on patient-initiated testing at a legitimate genetic testing laboratory.

#breastcancerawareness #breastcancer #breastcancersurvivor #breastcancerprevention #brca #genetictesting #earlydetection #breastcancerfighter #breastcancerunder40 #malebreastcancer #youngbreastcancer #pinktober #breastcancerwarrior #womenshealth
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