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Every year on World Undiagnosed Day, we honor the stories that don’t yet have answers — the children without a diagnosis, the families navigating a sea of inconclusive reports, and the many professionals walking alongside them in quiet solidarity. One such story is that of a couple whose journey I had the privilege — and emotional challenge — of witnessing. Their son, now 13 years old, began showing symptoms at the age of 3.5. It started subtly — leg pain, toe walking, episodes of muscle weakness. But what followed was a complex diagnostic odyssey spanning nearly a decade and four different genetic tests. Despite countless efforts, a definitive diagnosis was never reached. A Timeline of Testing, and the Toll It Took The journey began in 2016 with a targeted exome sequencing, which revealed an incidental finding unrelated to the child’s symptoms. Parental testing was pursued to assess the relevance of this finding — ultimately, it was not significant. Still, it set the tone: complex, inconclusive, and emotionally taxing. Later that same year, a whole exome sequencing (WES) identified two VUS (variants of uncertain significance) in the TTN gene, a gene associated with various muscular disorders. Again, parental testing revealed these variants were inherited, making their clinical relevance unclear. The couple hoped for answers but received only more ambiguity. A neuromuscular panel followed, uncovering a VUS in the SCN4A gene — but this variant didn’t match the child’s clinical picture. No parental testing was done this time. By now, they had already invested years, energy, and money into a process that seemed increasingly opaque. They persisted. All recommended non-genetic tests — EEG, MRI, ECG, and EMG/NCS — were completed. In 2020, a research-based whole exome sequencing was performed. It came back negative. A muscle biopsy and Western blot even showed reduced expression of specific muscle proteins, pointing to a likely underlying condition. But without a confirmed genetic diagnosis, even these results could not guide the next steps. No list of genes analyzed was included in any of the tests, and there was no way to confirm whether the genes encoding the affected proteins had even been looked at. When Science Fails to Keep Pace with Time When the couple came to the clinic in 2024, the wife was pregnant again — and desperate for clarity. But there was none. The lack of a confirmed diagnosis in their son meant that no targeted prenatal testing could be offered for the ongoing pregnancy. They were left to choose between an invasive test that might yield no actionable result — or continuing the pregnancy without knowing the affected status. Meanwhile, I tried everything I could to retrieve old data. I contacted the labs, the clinicians, even the researchers involved in the exome project. But time had eroded access. Commercial labs had shut down services. The research team had disbanded. The raw data from all previous tests was lost. By this point, the emotional and financial burden had taken its toll. The couple was exhausted. Disillusioned. After nearly a decade of testing, hospitals, reports, and waiting — they chose not to pursue further testing for their son or for the ongoing pregnancy. Their decision, rooted in heartbreak and hard-earned wisdom, was to move forward — not because they had answers, but because they simply couldn't endure more questions. What This Teaches Us This case is not rare. It is common. And it raises urgent issues for our healthcare and genetic testing systems: 1. The Importance of Trio Testing In all the testing done for this child, no full trio-based exome or genome sequencing was ever performed. Testing the child’s DNA alongside both parents could have dramatically improved variant interpretation and potentially shortened this diagnostic odyssey. 2. How Far We've Come From 2016 to 2025, the field of genetic diagnostics has evolved immensely. Technologies are more sensitive, interpretation pipelines more refined, and databases far more complete. What was undetectable in 2016 might be diagnosable today with a whole genome sequencing — an option we discussed, but which the couple ultimately declined. 3. The Cost of Inaccessibility When families cannot access raw data from previous tests, they are forced to start from scratch — losing time, money, and trust. Genetic data must be portable, retrievable, and patient-owned. 4. The Psychological Weight of the Unknown The inability to test their unborn child for the same condition as their son intensified the couple’s anxiety. This isn’t just a genetic challenge — it’s an emotional and ethical one. As professionals, we must acknowledge this trauma and create support systems that address not just the medical, but also the psychological toll of undiagnosed conditions. This couple’s story is one of resilience and quiet courage. Despite systemic failures, they carried on. Despite emotional fatigue, they showed up. Despite uncertainty, they chose hope. On this World Undiagnosed Day, let us advocate not just for better science — but for better systems. Systems where data is preserved, trio testing is prioritized, and emotional support is considered as critical as clinical care. And above all, let us never forget that behind every "undiagnosed case" is a family — waiting, worrying, and still hoping for a name. To all those still waiting: we see you . #WorldUndiagnosedDay #GeneticCounseling #TheGeneScene #TrioTesting #PatientVoicesMatter #StillWaiting

The global prevalence of ADHD is estimated at 5.3%, but the true incidence is likely higher when considering undiagnosed cases. ADHD is a complex neurodevelopmental condition with a strong genetic basis. As genetic counselors, understanding the clinical features, diagnostic process, and genetic underpinnings of ADHD is essential for guiding families through recurrence risk and management options. Although a diagnosis of ADHD warrants a multidisciplinary evaluation, this article is intended to serve as a quick guide to help genetic counselors navigate the key aspects of evaluating a child with suspected ADHD. ADHD, or Attention deficit hyperactivity disorder, was described by Sir Alexander Crichton in 1798 as - The morbid alterations to which attention is subject, may all be reduced under the two following heads: First. The incapacity of attending with a necessary degree of constancy to any one object. Second. A total suspension of its effects on the brain. The incapacity of attending with a necessary degree of constancy to any one object, almost always arises from an unnatural or morbid sensibility of the nerves, by which means this faculty is incessantly withdrawn from one impression to another. It may be either born with a person, or it may be the effect of accidental diseases. When born with a person it becomes evident at a very early period of life, and has a very bad effect, inasmuch as it renders him incapable of attending with constancy to any one object of education. But it seldom is in so great a degree as totally to impede all instruction; and what is very fortunate, it is generally diminished with age. (Crichton, 1798, reprint p. 203) Although ADHD, in its various forms, has been recognized for a long long time, it first appeared in the American Psychiatric Association’s Diagnostic and Statistical Manual of Mental Disorders (DSM) version II, as Hyperkinetic Reaction of Childhood. After multiple revisions, controversies and changes, it has now been listed as Attention Deficit Hyperactivity Disorder (ADHD) in the latest DSM V with the diagnostic criteria listed here . ADHD symptoms are typically grouped into three main categories: Inattention Hyperactivity Impulsivity Prone to careless mistakes Constantly "on the go" Difficulty remaining seated Easily distracted Fidgety and unable to stay still Tends to interrupt conversations Frequently loses things Extreme restlessness Struggles with waiting or taking turns The signs are usually noticed around 3-4 years of age when the child presents with very high motor activity along with inattention in a school setting at about 3-5 years of age. The onset of symptoms can be up to 12 years of age and present in at least two different settings interfering with social, academic and occupational functioning. A clinical suspicion of ADHD warrants an evaluation about the medical, developmental, education and psychosocial aspects and should include the following: Prenatal History Exposures Perinatal complications Infections, complications Head trauma Although there is strong evidence that rare events like traumatic brain injury can cause ADHD, many other environmental events are associated with ADHD Recurrent otitis media Research has established a positive link between ADHD and recurrent otitis media Age of onset of symptoms Duration should be at least 6 months Family history of similar behaviours ADHD has a heritability of approximately 80% Observation of Parent Child interactions Symptoms should be same in different settings (school, home, clinic, etc) Developmental history with a focus on language milestones Majority of the children with isolated ADHD attain age appropriate milestones. Presence of developmental delays can point towards ADHD being comorbidity for intellectual disability rather than isolated ADHD Comorbidities and Medical history Seizures, vision/hearing problems, motor disability Degree of functional impairment Helps decide the need for medication A thorough evaluation should also include the following: (Referrals may be needed to ensure all evaluations have been performed) Anthropometric growth parameters Vision and hearing assessment Presence of dysmorphic features Neurocutaneous markers Comprehensive psychological assessmen t ADHD evaluation, by itself, does not require blood lead levels, thyroid hormone levels, neuroimaging, or electroencephalography unless indicated during a clinical evaluation Management options and suggestions for the parent include behavioral interventions as the first line of treatment for preschool children with ADHD, medication with/without behavioral intervention for older children and adolescents, educational interventions that should be looked at in a combinational manner. Twin and family studies have shown that ADHD has a heritability of approximately 80%, indicating a strong genetic contribution to its development. This heritability remains consistent across sexes, different life stages (childhood and adulthood), and various symptom domains. Large genome-wide association studies (GWAS) have identified 27 significant loci linked to 76 genes, many of which are active during early brain development. Research on rare genetic variants has also revealed a higher burden of rare protein-truncating variants in highly conserved genes in individuals with ADHD. Additionally, several copy number variants (CNVs) associated with ADHD overlap with those implicated in autism spectrum disorder and schizophrenia. Both common and rare variant studies highlight the involvement of neurodevelopmental processes in ADHD, reinforcing the connection between ADHD and changes in brain development, structure, and function. However, a key limitation is that most genetic studies of ADHD have primarily focused on individuals of European ancestry. SUGGESTIONS FOR GENETIC COUNSELLING: Setting Realistic Expectations for Families Parents often approach genetic counseling with questions about why their child has ADHD, whether it could have been prevented, and what to expect in the future. Setting realistic expectations is essential to help families navigate the uncertainty surrounding ADHD: Acknowledge the Complexity – Explain that while ADHD has a strong genetic basis (~80% heritability), environmental factors (such as prenatal exposures, parenting styles, and diet) also contribute to symptom severity and management. Clarify the Limitations of Genetic Prediction – Emphasize that currently genetic testing has limited utility in predicting ADHD with certainty due to its polygenic nature and interaction with environmental factors. Set Expectations for Symptom Management – Help parents understand that ADHD is a chronic condition that often persists into adulthood, but symptoms can be managed with a combination of behavioral strategies, therapy, and (if needed) medication. "The goal of management is not to ‘cure’ ADHD but to equip the child with tools to succeed academically, socially, and emotionally." Discuss Variability in Outcomes – Explain that response to treatment can vary significantly among individuals, and management plans may need to be adjusted over time. Educating Parents on Environmental Influences and Coping Strategies While genetic factors play a significant role, environmental factors can also impact the severity and management of ADHD symptoms. Educating parents on how to modify these influences can empower them to create a more supportive environment: Create a Structured Environment – Recommend maintaining consistent daily routines and clear expectations to help reduce impulsivity and improve focus. Structured schedules and clear rules can help children with ADHD feel more secure and in control. Behavioral Strategies – Provide practical coping strategies such as positive reinforcement, using visual aids, and breaking tasks into smaller steps. Using reward charts for positive behavior can encourage the child to stay focused and motivated. Diet and Sleep Hygiene – Educate parents about the role of nutrition and sleep in managing ADHD symptoms. Ensuring that the child gets enough sleep and has a balanced diet can significantly improve focus and emotional regulation. Reducing Environmental Stressors – Encourage minimizing distractions at home and school (e.g., using noise-canceling headphones or creating a quiet workspace). Encourage Physical Activity – Highlight the benefits of exercise in improving focus and reducing hyperactivity. Regular physical activity has been shown to increase dopamine levels and improve attention." Highlighting the Importance of Ongoing Support and Follow-Up ADHD is a lifelong condition, and the needs of individuals may change over time. Emphasize the importance of continuous monitoring and support: Encourage Long-Term Monitoring – Suggest periodic follow-ups with healthcare providers to adjust medication, therapy, and school-based interventions as needed. Symptoms and needs may change as the child grows; regular follow-ups can help tailor the management plan accordingly. School-Based Support – Discuss the importance of collaborating with teachers and school counselors to create an Individualized Education Plan (IEP). A structured learning plan at school can help the child manage attention difficulties and meet academic goals. Support for Families – Recommend parent training programs and ADHD support groups to help parents connect with others facing similar challenges. Parent training programs can help families develop effective strategies and feel more confident in managing ADHD." Transition to Adulthood – Prepare families for the long-term management of ADHD, including challenges related to higher education, employment, and relationships. Sibling and Family Dynamics – Address the emotional impact on siblings and family members, providing guidance on how to foster understanding and support. Psychological and Emotional Support ADHD can impact a child's self-esteem and emotional well-being. Genetic counselors can provide guidance on managing these psychological effects: Address Self-Esteem Issues – Children with ADHD may struggle with feeling "different" or "less capable." Encourage parents to focus on strengths rather than weaknesses. Manage Stigma – Educate families about the neurodivergence model and emphasize that ADHD reflects brain differences rather than deficits. ADHD is a different way of thinking, not a flaw. Understanding this helps reduce feelings of inadequacy. Encourage Open Communication – Create a safe space for children to express their frustrations and challenges without fear of judgment. As research advances, a better understanding of the genetic and environmental underpinnings of ADHD will improve risk prediction and targeted interventions, strengthening the role of genetic counseling in managing ADHD. The complexity underscores the importance of providing balanced counseling—acknowledging the genetic contribution while guiding families through the uncertainty. A tailored, empathetic approach can help families better understand the risks, available support options, and strategies for managing ADHD effectively. The complexity of the neurodevelopmental condition with both genetic and environmental influences, makes it a challenging yet important area for genetic counselors to address. While this article aims to provide a broad overview of the key aspects of evaluating and managing ADHD, it is by no means a comprehensive guide. Every case is unique, and a tailored, multidisciplinary approach is essential for effective management. We would love to hear your thoughts and experiences—what strategies have worked for you in counseling families with ADHD? Feel free to share your insights or questions in the comments below! References: https://applications.emro.who.int/docs/EMRPUB_leaflet_2019_mnh_214_en.pdf https://adhdfoundation.org.au/wp-content/uploads/2020/06/ADULT-ADHD.pdf https://infocenter.nimh.nih.gov/sites/default/files/2021-12/attention-deficit-hyperactivity-disorder-in-adults-what-you-need-to-know_0.pdf Lange KW, Reichl S, Lange KM, Tucha L, Tucha O. The history of attention deficit hyperactivity disorder. Atten Defic Hyperact Disord. 2010;2(4):241-255. Epstein JN, Loren RE. Changes in the Definition of ADHD in DSM-5: Subtle but Important. Neuropsychiatry (London). 2013;3(5):455-458. doi:10.2217/npy.13.59 https://www.aafp.org/dam/AAFP/documents/patient_care/adhd_toolkit/adhd19-assessment-table1.pdf Faraone SV, Bellgrove MA, Brikell I, et al. Attention-deficit/hyperactivity disorder [published correction appears in Nat Rev Dis Primers. 2024 Apr 15;10(1):29. Nat Rev Dis Primers. 2024;10(1):11. Published 2024 Feb 22. Chakrabarty, B. (n.d.). Developmental and Behavioral Disorders . In GHAI Essential Pediatrics (10th ed.). essay, CBS Publishers . Kaushik, J. S., & Gupta, P. (n.d.). Approach to Diagnosis of Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder. In Clinical Approach to Pediatric Neurology. essay, Jaypee Brothers. Dalwai, S. H., & Sukhadwala, H. (n.d.). Attention Deficit Hyperactivity Disorder. In IAP Handbook of Developmental and Behavioral Pediatrics. essay, Jaypee Brothers.

Hello, and welcome to TheGeneScene. Today, we're delving into a remarkable story from a recent genetic counseling session. Sometimes, the genetic information we uncover during a session can be surprising, even life-changing. In this post, we'll explore a case where unexpected genetic results took both me and the patient by surprise, reshaping their understanding and the emotional journey that follows. A clinical child psychologist had referred the 32 year old consanguineously married lady for counseling, whose son had recently been diagnosed with mild ADHD and had also been presenting with behavioral issues, lack of interest in eating and self talking. The lady was referred primarily to understand the recurrence risk for ADHD as well as implications of multiple levels of consanguinity in the family for her next pregnancy.  An important part of a genetic counseling session is documenting the family history in the form of a pedigree. This process serves several purposes: it helps build rapport with the family, provides insight into family dynamics and relationships, and offers critical medical information about all family members. A standard practice I follow when creating the pedigree, regardless of the referral reason, is to ask about any family history of cancer. Most people are aware that cancers can run in families. Yet, more often than not, it only comes up when specifically asked for. I have personally had multiple sessions where there is a previously unreported family history of breast, colon, pancreatic or other hereditary forms of cancers.  This session was no different. When asked about her family's medical history, the woman mentioned that her mother had been diagnosed with breast cancer at the age of 48. Upon further inquiry, she said her mother had undergone germline genetic testing and received a negative result. However, when she showed me the report on her phone, it revealed a BRCA2 positive result with a pathogenic variant identified. I was taken aback when I saw the BRCA2 positive report with a pathogenic variant identified. It was clear that the results had significant implications for the family's health. When I shared this observation, the woman admitted that no one had really explained the report to her, and she must have misunderstood the findings.  There are two key points I'd like to highlight here: First, while it's common for a family history of cancer to be revealed only after specifically asking about it, this was the first time I encountered a situation where a family member had undergone genetic testing for cancer and received a positive result. Typically, even if there is a family history of cancer, tests are either not conducted, or the reports are unavailable. Second, it’s not uncommon for patients to share their previous genetic test results while having no understanding of the significance and the implications, whether those results are positive, negative, or inconclusive. Patients often lack a clear understanding of their genetic test results, leading to unnecessary worry and confusion. It underscored the importance of thorough communication and education to ensure patients are fully informed and supported throughout the process. A lot of times genetic counselors have a flow or structure planned for a session and unexpected findings can shake things up. It is important to have the flexibility to be able to adapt and change the session based on the findings and family’s needs. Keeping the BRCA2 finding in mind, the focus of the session moved from explaining the multifactorial inheritance pattern and genetic testing options for ADHD (more on the details of this in another post), to the implications of the BRCA2 finding for the lady and her brother.  After reviewing the BRCA2 result, the woman acknowledged that she must have misunderstood the findings and expressed a strong desire to know her own mutation status and cancer risk. She seemed concerned and eager to gain clarity on her health situation. When I inquired about her feelings regarding this unexpected discovery, she admitted feeling nervous and anxious about her results and potential risk.  As a genetic counselor, every session brings its own set of challenges and surprises, but some cases stand out for their profound impact on both the patient and the counselor. This case underscored the importance of thorough communication in genetic counseling. It highlighted how critical it is to ask detailed questions about family history and ensure patients fully understand their test results.  Additionally, it is crucial to address the results by providing clear, empathetic communication and support. When patients receive unexpected news, it’s essential to take the time to explain the findings thoroughly, ensuring they understand what the results mean for their health and their family's health. Offering emotional support and acknowledging their feelings of anxiety or fear is vital. This involves validating their emotions, providing reassurance, and discussing actionable next steps. Connecting patients with additional resources, such as support groups or mental health professionals, can also be beneficial. By guiding patients through their emotional responses and helping them navigate their options, we can help them feel more informed and reassured, ultimately reducing their distress and empowering them to make informed decisions about their health. Apart from a lot of obvious reasons, I’m essentially writing about this case to highlight the importance of sitting across an individual during a session and making sure we, as genetic counselors and healthcare providers, ask the correct questions to not miss out important information. Let me know if you have had a similar situation or how you would approach this case.  Looking forward to getting some responses on this post. You can reach me at hello@thegenescene.in Best, Simran

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About Hello and Welcome to TheGeneScene! I’m Simran, the voice behind TheGeneScene. As a board-certified Genetic Counselor with a Diploma in Counseling and Family Therapy, I've guided over 150 families through their genetic testing journeys, offering compassionate support and empathy. My experience spans across various settings, including diagnostic companies, fetal medicine and IVF clinics, and hospitals. I am a member of various organizations including the Board of Genetic Counseling- India, the Society of Fetal Medicine - Karnataka Chapter, International Parkinson and Movement Disorder Society, the Ataxia Foundation, and Organization for Rare Diseases-India. I believe that genetic services should be accessible to everyone. My aim is to empower you with the information and resources you need to make informed decisions about your health, and to help you navigate the complex world of genetic testing and counseling. I would like to express my sincere gratitude for the exceptional care and support Simran has provided for my patients during the consultations. Her expertise and thorough explanations have significantly enhanced the understanding of genetics. I appreciate the time she took to answer my questions and address the concerns of my patients with such patience and clarity. Her compassionate approach made a potentially overwhelming experience much more manageable. The detailed reports and actionable insights she provided has been invaluable in guiding my next steps. I feel more informed and empowered to make a decision for my patients. Dr. Dheeman Sarkar, M.D. (Radiodiagnosis) Fetal Medicine Specialist Simran is an excellent counsellor. She takes detailed history and explains it to the couple and family in a simplified manner after thoroughly going through the case history. Very polite and soft spoken. Highly recommended. Dr. Bhawna Garg M.S. (Obstetrics and Gynaecology) Fetal medicine specialist My experience of working with Simran has been great. She is wonderful with her patients, has a detailed conversation to understand the concerns and does not rush the session. Both pre and post test sessions are conducted in depth with no time constant. Her knowledge and understanding of the different tests is excellent and she makes sure that her patients understand the technicalities. She ensures that along with the medical aspect, the emotional concerns related to a high risk pregnancy are addressed and discussed. She is a great value addition to any healthcare team and I’m happy to have been associated with her. Dr. Gaurav Verma M.D. (Radiology)

TheGeneScene A place where we are passionate about spreading awareness and education about the importance of genetic disorders. Our goal is to help individuals and families with rare disorders and to provide them with the resources they need to enhance their well-being. Have you ever heard the saying, "When you hear hoofbeats, think horses, not zebras?" In medicine, this proverb highlights the importance of considering common ailments first. But what about the zebras – the rare diseases that often get overlooked? Rare But Not Uncommon. While individual rare diseases affect a small number of people, collectively, they impact millions globally. The National Institutes of Health (NIH) estimates over 7,000 rare diseases affecting more than 300 million individuals worldwide. Most healthcare providers, more often than not, prioritize frequent conditions. However, this can lead to overlooking less prevalent but potentially serious rare disorders. Early diagnosis is crucial for managing rare diseases effectively. By understanding the challenges and being your own healthcare advocate, you can increase your chances of a timely and accurate diagnosis. About Hello and Welcome to TheGeneScene! I’m Simran, the voice behind TheGeneScene. As a board-certified Genetic Counselor with a Diploma in Counseling and Family Therapy, I've guided over 150 families through their genetic testing journeys, offering compassionate support and empathy. My experience spans across various settings, including diagnostic companies, fetal medicine and IVF clinics, and hospitals. I am a member of various organizations including the Board of Genetic Counseling- India, the Society of Fetal Medicine - Karnataka Chapter, International Parkinson and Movement Disorder Society, the Ataxia Foundation, and Organization for Rare Diseases-India. I believe that genetic services should be accessible to everyone. My aim is to empower you with the information and resources you need to make informed decisions about your health, and to help you navigate the complex world of genetic testing and counseling. I would like to express my sincere gratitude for the exceptional care and support Simran has provided for my patients during the consultations. Her expertise and thorough explanations have significantly enhanced the understanding of genetics. I appreciate the time she took to answer my questions and address the concerns of my patients with such patience and clarity. Her compassionate approach made a potentially overwhelming experience much more manageable. The detailed reports and actionable insights she provided has been invaluable in guiding my next steps. I feel more informed and empowered to make a decision for my patients. Dr. Dheeman Sarkar Simran is an excellent counsellor. She takes detailed history and explains it to the couple and family in a simplified manner after thoroughly going through the case history. Very polite and soft spoken. Highly recommended. Dr. Bhawna Garg I have had the pleasure of working with Simran, a genetic counsellor whose exceptional services truly stand out. Simran has an incredible ability to put patients at ease, ensuring they feel comfortable and supported throughout the consultation process. Her expertise and clear communication style provide invaluable clarity to both patients and doctors alike. Simran's compassionate approach and dedication to her work make her an outstanding asset in the field of genetic counseling. I highly recommend her services to anyone in need of professional and empathetic genetic counseling Dr. Nidhi Raj My experience of working with Simran has been great. She is wonderful with her patients, has a detailed conversation to understand the concerns and does not rush the session. Both pre and post test sessions are conducted in depth with no time constant. Her knowledge and understanding of the different tests is excellent and she makes sure that her patients understand the technicalities. She ensures that along with the medical aspect, the emotional concerns related to a high risk pregnancy are addressed and discussed. She is a great value addition to any healthcare team and I’m happy to have been associated with her. Dr. Gaurav Verma Having worked with Simran for a year, I can assure you that she is definitely one of the best Genetic Counselors in the country. She has immense knowledge in the field and is collaborate and very easy to work with. She is constantly learning and updating herself about the developments in the field and that is something I admire. I have learnt a lot from her during our tenure together and I only wish her the best! Shreya Satheesh Genetic Counselor Read More The Gene Scene does not provide medical advice. This is an opinion based website, and this information is designed for educational purposes. The use of this information is voluntary.