Robin King, MS, CGC, MBA’s Post

Recently, I had a patient who didn’t meet the typical criteria for genetic testing due to a lack of known family history. This person decided to move forward with a general proactive panel and paid out-of-pocket. The results? A significant mutation that will greatly impact their healthcare going forward. We have so much knowledge about the gene and many tools to support them and their relatives. As a Genetic Counselor with nearly a decade of experience, this reinforces 4 key thoughts for me: 1. Many people are living with genetic mutations that could drastically impact their health—and most don’t know about it. 2. The technology to identify these mutations exists, but most are unaware of it. 3. Our current system isn’t working. Too many people are being missed due to either overly strict guidelines or inconsistent implementation. 4. There is a reason that many questionable, fly-by-night genetic testing companies exist- When the medical community doesn’t meet patient needs, they turn to the internet for answers. It’s because of these recurrent experiences that I am a strong advocate for everyone being offered the same broad genetic testing- aka "population screening". For now, I love that I can offer this type of testing to people who are self-motivated and have the means to pay when it won’t be covered by their insurance. BUT my hope for the future is that everyone can access it as a covered benefit. In the meantime, I’m committed to contributing to the growing data that supports the benefit of testing people who fall outside traditional guidelines. If you are interested in this type of testing, I offer it through my private practice www.malibugenetics.com. Does anyone else order this type of testing? I know this is controversial, but I believe genetic testing shouldn’t be limited by arbitrary guidelines for insurance coverage or available only to those who know their family history. This patient’s life just changed because they took proactive steps. It’s time for everyone to have access to broad genetic testing—knowledge is power! 💡 #GeneticCounseling #PopulationScreening #ProactiveHealth #PreventiveCare #GeneticTesting #HealthcareInnovation

𝑩𝒓𝒊𝒅𝒈𝒊𝒏𝒈 𝒕𝒉𝒆 𝑮𝒆𝒏𝒆𝒕𝒊𝒄 𝑫𝒊𝒂𝒈𝒏𝒐𝒔𝒊𝒔 𝑮𝒂𝒑! Genetic diagnosis is essential for understanding and treating genetic conditions, yet there is still a gap in access to this type of testing. This gap can be attributed to a variety of factors. In order to bridge this gap, efforts must be made to increase education and awareness about genetic testing, improve access to genetic services, and make testing more affordable and accessible for all individuals. By addressing these barriers, we can ensure that more people receive timely and accurate genetic diagnoses, leading to better treatment and management of genetic conditions. Additionally, expanding research and development in the field of genetics can lead to advancements in testing technology, making it more cost-effective and efficient. Collaborations between healthcare providers, genetic counselors, and insurance companies can also help streamline the process of obtaining genetic testing. Ultimately, closing the gap in access to genetic testing will not only benefit individuals and families affected by genetic conditions, but also contribute to the overall improvement of healthcare outcomes and quality of life. #geneticdiagnosis #genetictesting #healthcareaccess #healthcare #medicalcare #precisionmedicine #publichealth

**The Rising Role of Genetic Counselors: Shaping the Future of Personalized Medicine** As genetic testing becomes a cornerstone of modern healthcare, the role of genetic counselors has never been more crucial—or in demand. These professionals are not just interpreters of complex genetic data; they are navigators, guiding patients through the intricate world of genetic information to make informed health decisions. **Why the Surge in Demand?** - **Personalized Medicine:** As we move towards tailored healthcare, genetic counselors help patients understand their unique genetic makeup and its implications. - **Advanced Testing Options:** From cancer risk to rare diseases, genetic testing options have exploded, and so has the need for expert guidance in understanding these results. - **Patient Advocacy:** Genetic counselors advocate for patients, ensuring they have access to the latest testing and that their results are used effectively in their care plans. **The Future? Bright and Expanding!** - **Integration in Clinical Settings:** Expect genetic counselors to become integral parts of multidisciplinary teams across various specialties. - **Telehealth Growth:** With telehealth, genetic counseling is becoming more accessible, breaking down geographical barriers. - **AI and Data Analytics:** As technology advances, counselors will use AI tools to provide even more precise and actionable insights. The future of healthcare is genetic—and genetic counselors are leading the way! #GeneticCounseling #PersonalizedMedicine #HealthcareInnovation #Genetics #FutureOfHealth #Telehealth #Genomics #PatientCare MEDGENOME

A #doctor recently asked for my professional opinion on the following case: "As the 'official' testing was cost-prohibitive and the #patient has been continuously ignored by her other #healthcare providers, she pursued an at-home #genetic test because she thinks she has #EDS. I am having difficulty interpreting the results and am looking for assistance in using them to provide her with preventative care. Please see attached results." This makes me sad for a number of reasons. 1. No patient should ever be ignored by their healthcare provider. Hippocratic oath much? 2. Yet the fault does not rest solely on doctors as they get reimbursed for a sliver of time that is wholly inadequate to (a) form a relationship with a patient, (b) understand their concerns, (c) obtain a necessary #health history, and (d) discuss differentials and testing options. 3. Enter a #geneticcounselor, who can do all of those things (mainly because we don't get reimbursed so we have one less entity dictating the care we provide to a patient.) 4. Yet while patients are well aware of various options for illegitimate genetic testing options that will provide zero assistance to their #diagnosticodyssey so few know about genetic counselors and the true value they provide. Had this patient talked with a genetic counselor, perhaps there would have been an option that was not or at least less cost-prohibited. Instead, she spent money she probably didn't have for something that offered her no value. In the end, I told the provider I could not interpret the patient's raw data, explained in detail why DTC testing is never the way to go in these scenarios, and recommended that the patient be referred to a genetic counselor who could discuss options of a clinical diagnostic EDS panel through a CLIA and CAP certified lab and discuss all the nuances of hypermobile EDS should that be the specific form the patient is concerned about. #genechat

Understanding Genetic Testing: Basics and Implications for Personal Health Genetic testing has revolutionized how we approach personal health, offering insights that were once unimaginable. At its core, genetic testing involves analyzing DNA to identify changes or mutations in genes that may indicate a risk for specific diseases or conditions. This process typically includes various tests, such as single-gene tests, which focus on one gene, or multi-gene panels that evaluate several genes simultaneously. The primary advantage of genetic testing is its ability to predict predisposition to genetic disorders, allowing individuals to make informed health decisions. For example, testing can reveal a higher likelihood of developing conditions like breast cancer or heart disease, leading to proactive measures such as lifestyle adjustments or early interventions. However, genetic testing also carries implications beyond personal health. The results can impact family dynamics, insurance, and privacy concerns. It is crucial to consider these factors and discuss results with a healthcare provider who can provide context and guidance. Overall, while genetic testing offers valuable information and potential benefits, it is essential to approach it with a clear understanding of its scope and limitations. Consulting with genetic counselors can help navigate the complexities and make informed decisions about managing one's health based on genetic insights.

Child goes in to the pediatrician for a cough, leaves with an order for Whole Exome Sequencing for 9000$..... So this blast from the past (see image) from when I worked at a now defunct genetics lab popped up on my Facebook feed today. Exome sequencing (a test where all the coding parts of the DNA are sequenced and analysed) was the shiny new toy in town in 2012-13 and everyone thought that it was THE answer to everything. Have things changed since 2013? 🤔 Maybe? Maybe not? ❌ Inappropriate and wasteful ordering of genetic testing is a huge problem even today ❌ Orders from non-genetic experts are more likely to be cancelled when institutions have a lab stewardship program in place ❌ Considering the >80000 genetic tests (and counting) on the market today, it is not just important to order A genetic test but it is important to order THE CORRECT GENETIC TEST! Having #geneticcounselors review orders when tests are requested by non-geneticists who might not be aware of all the nuances around genetic testing can help healthcare organisations, laboratories, healthcare systems and insurances save money, time and effort and help individuals and their family get a diagnosis in the most time and cost-effective manner. Stewardship programs in hospitals and laboratories are key to ensuring that patients receive the most appropriate test when the need it with the least cost. Are you an institution planning to incorporate #genomics and #genetictesting into your organisation? GeneLinx and our genetic counsellors can help support you, your team and your patients with the right strategy, setup and workflows. Reach out! If you want to know how the above story ended then read👇 in the comments Do you have a crazy story about inappropriate testing? Tell me about it in the comments 👇 #labutilisation #geneticcounselors #gcchat #exomesequencing

Do we currently assess SDoH appropriately in genetics clinics? I have been interested in reviewing social determinants of health (SDoH) in common adult chronic conditions such as cardiac and kidney diseases that may have a genetic component but also may be the amalgamation of one's SDoH over the lifetime + oligogenic factors. I recently came across this review article (Snowdon et al. 2023) that performed a meta-analysis of 35 studies of how SDoH were studied in relation to cardiovascular disease. Overall the authors note potential for AI and ML models for predicting CVD risk and outcomes. Their review noted absence of many studies that incorporated education level, unemployment or health insurance status. In addition most looked at downstream measures and not upstream SDoH measures such as social disadvantage and racism that is predicted to affect CVD risk. Continue the read - https://lnkd.in/dbR-uceK Whether or not genetic testing is informative for a particular family, the continuation to focus on SDoH for patients and the connections between gene status, SDoH and risks/outcomes of disease is important for truly informed cascade family information sharing. #genechat #genetics #cardio

Genetic tests are performed with a purpose: to understand how specific gene combinations affect the issues we aim to solve. All laboratory data is tied to clinical objectives, whether it's identifying risks, diagnosing diseases, or adjusting medication dosages. While clinicians often handle these tasks outside the lab, the lab plays a crucial role in supporting this clinical work. To effectively support clinicians, laboratories need to extend their capabilities with the help of #LIMS. This integration will transform the IT landscape, fostering closer collaboration between laboratories and clinicians.

Snippet 17 Who is Genetic Counselor ? A genetic counselor is a specialized healthcare professional who plays a crucial role in helping individuals and families understand the genetic aspects of various health conditions. These professionals possess expertise in both genetics and counseling, allowing them to provide support and guidance to individuals who may be at risk for genetic disorders or have a family history of such conditions. The primary responsibilities of genetic counselors include: 1. **Risk Assessment:** Genetic counselors assess the risk of genetic conditions based on family history, medical records, and genetic testing results. They help individuals understand the likelihood of developing or passing on a genetic disorder. 2. **Education and Counseling:** Genetic counselors educate individuals and families about the nature of genetic conditions, inheritance patterns, and available testing options. They provide emotional support, helping clients cope with the psychological and emotional implications of genetic information. 3. **Genetic Testing Coordination:** Genetic counselors facilitate and coordinate genetic testing when necessary. They interpret the results of these tests and communicate them to individuals, explaining the potential impact on their health and the health of their family members. 4. **Family Planning Guidance:** For individuals with a known or potential risk of passing on a genetic condition, genetic counselors offer guidance on family planning options. This may involve discussing reproductive choices, such as prenatal testing or assisted reproductive technologies. 5. **Collaboration with Healthcare Providers:** Genetic counselors often work closely with other healthcare professionals, including geneticists, physicians, and nurses, to ensure comprehensive and coordinated care for individuals and families dealing with genetic concerns. 6. **Staying Informed:** Given the rapidly evolving field of genetics, genetic counselors stay up-to-date with the latest research and advancements. They continually expand their knowledge to provide the most accurate and relevant information to their clients. #Geneticcounselors play a vital role in empowering individuals to make informed decisions about their health and the health of their families in the context of genetic information. Their interdisciplinary skills and compassionate approach contribute to the overall well-being of individuals facing genetic challenges. #genetics #geneticcounseling #healthcareprofessional #parichaysr #liason #medicalliason #counselor Image courtesy - Dr. Supriya Ganesh Wakchaure - https://lnkd.in/gXu3t5XD

New Post: Understanding Direct-to-Consumer Genetic Testing: Insights and Considerations - https://lnkd.in/gRQ6pBjk MKGenetix aims to empower individuals and families with informed decisions about health through direct-to-consumer genetic testing. These tests offer accessibility, ancestry insights, and health information, but their limitations include clinical validity, interpretation complexities, privacy concerns, and psychological impacts. MKGenetix provides genetic counseling, risk assessment, guidance on further testing, privacy considerations, and ongoing support.