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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

Hi, everyone! On TheGeneScene this week, we're exploring the powerful role of denial in genetic counseling. With a real-life case study, we'll see how this emotional barrier can affect a family's journey towards understanding and acceptance.  A lady came to the clinic with a two year old baby. The child was fair with light hair, quite unlike the parents, was not reaching developmental milestones on time and had a very happy and excited personality. The child also had a history of seizures. (All my GC people reading this - stop here and guess the disorder!) A genetic test was ordered that confirmed the diagnosis of Angelman Syndrome (AS). The child looked like a classical presentation of AS, a genetic disorder that occurs due to loss of function of the UBE3A gene. This loss of function can occur due to a variety of reasons. In this case, it was due to the deletion of the UBE3A gene on the maternally inherited chromosome 15.  We have two copies of each chromosome (except the X and Y) - inherited from each parent. Of these, there are some genes that are expressed, or work correctly, only when inherited from the specific parent - father or mother. Sometimes, due to an error, both copies of a particular chromosome come from the same parent. In case of such an error, if only the maternally inherited genes on that chromosome usually work, then if both copies have been inherited from the father, the genes won't function correctly.  This is essentially what happens in AS. Since the UBE3A gene is active when it comes from the mother, and this child had only the paternally inherited gene, it was not functioning correctly, leading to AS.  Now to the ‘C’ in GC part - this child was the couple’s first baby, with no previous history of pregnancies. Upon getting the results, the lady came in for a session where she was informed about the results. However, she refused to believe the test. She was sure that the results were wrong and she wanted to repeat the test. She was, in other words, in denial, and did not want to believe the test results.  Not believing the test result is a way to hold on to the hope for a cure. Denial is an extremely common defense mechanism where a person would find it difficult to accept the situation, in this case - the test result, to prevent feelings of anxiety and stress along with wanting to avoid the fact that there is something “wrong” with the child. More often than not, genetic disorders don’t have a cure and we usually depend on varying forms of management to improve quality of life.  A defense mechanism, such as denial, is the mind’s way of protecting the self from a dangerous situation. In the short term, it buys time for a person to accept the situation and adjust to the new reality. However, if not dealt with, denial can lead to issues by preventing individuals from addressing problems or making necessary changes. In some instances, it can hinder them from accepting help or receiving the treatment they need. In this particular case, it was important that the mother understood the diagnosis to implement management and therapies for the child.  There are certain things genetic counselors keep in mind while addressing this situation - Empathy and active listening can help in building rapport and trust. It also gives them the space to express thoughts and concerns without interrupting. This helps build trust and shows that we care about their perspective. Providing clear, compassionate communication by simplifying the information in simple terms, avoiding medical jargon and using diagrams or visual aids helps understand the genetic mechanisms involved. Additionally, repeating essential facts gently and patiently along with emphasizing that the test results are conclusive helps in accepting the diagnosis. Acknowledging the denial by gently pointing out that it is a common initial reaction to difficult news can help normalize feelings and reduce resistance. It is never a bad option to offer a re-test, based on the situation, to reassure, but it is important to explain that the results are unlikely to change.  Providing emotional support by referring the individual to a therapist along with getting them connected to support groups for parents of children with Angelman Syndrome can be very helpful. It gives an opportunity to talk to someone who is on the same journey as them and not feel alone. Giving a reality check while being honest yet compassionate is an important part of addressing denial. It is important to stress that understanding and accepting the diagnosis is essential for accessing appropriate therapies and support, which can significantly improve the child’s quality of life. This can be done using evidence-based facts, and gently but firmly, emphasizing the reliability of the genetic test and the importance of early intervention.  In our conversation, we discussed that while she was hoping for the test results to be wrong, it was clear that the child was visibly experiencing delayed development and seizures. This was a reality that could not be refuted. Making her aware of this reality, something akin to showing a mirror, based on a tangible experience allowed her to move past the denial and accept the diagnosis.  Dealing with denial in genetic counseling is not just about conveying information; it's about providing compassionate support and guiding families through their emotional journey. In this case, understanding and addressing the mother's denial was crucial for her to start accepting her child's diagnosis and seek the necessary support. Remember, denial is a natural response to distressing news, but facing reality is essential for accessing the right interventions and care. If you or someone you know is struggling with a similar situation, don't hesitate to reach out for professional help and support groups. Thank you for reading this edition of TheGeneScene. If you have any questions or experiences you'd like to share, feel free to get in touch at - hello@thegenescene.in . Together, we can navigate these challenging moments with empathy and knowledge. Stay tuned for more insights and stories in our upcoming posts. Best, Simran

Hey there! This week I talk about a case I had observed during my training that has stuck with me through the years for one particular reason. This is also the first of many cases that I want to write about, so stay tuned! Background: A non-consanguineously married couple (i.e., individuals who are not closely related to each other outside of marriage), came with a history of two pregnancy losses. In their first pregnancy, the fetus was identified to have hydrocephalus, an abnormal buildup of cerebrospinal fluid in the brain, which could be attributed to the chicken pox infection during the pregnancy. In the second pregnancy, the fetus was had a lethal form of skeletal dysplasia, which is an abnormal development of a baby's bones, joints, and cartilage. They came to the clinic at about 12 weeks into their third pregnancy, worried about the recurrence risk and to understand the chances of a healthy pregnancy. Now, along with giving them the rundown about what are genes, chromosomes, genetic v/s hereditary, and all of that, they were also advised to undergo a few tests. The first test was a karyotype for both partners. A karyotype is essentially a picture of the chromosomes that is used to determine the chromosomal number and structure. A structural problem in the chromosomes is one of the common causes of pregnancy losses. The karyotype results were normal for both partners. Along with the karyotype, a whole exome sequencing was suggested to check if the couple were carriers for genes related to bone deformity, or skeletal dysplasia. We have thousands of genes that are identical and present in all our cells. These genes give instructions for normal body functioning. Think of it like a manual for how to make the human body and its functioning. If there is a typo, or a change in any of the genes, the instructions are not read correctly, leading to an error in the body. A whole exome sequencing test was suggested to read all the genes and check for typos that may have happened in any of the genes that give instructions for skeletal development. This test was performed for both partners to check if the skeletal dysplasia identified in the second pregnancy was inherited or de novo , i.e., had happened in that pregnancy as an isolated event and not been passed on by the couple. Ideally, in cases where there is a fetal anomaly, the best option to get maximum clarity is to perform genetic testing on the fetus itself. However, this usually does not happen because of lack of information or awareness. A lot of times, the families are also not in the emotional headspace to understand the importance of testing. In such cases, the next best option is to test the couple to confirm if the anomaly is genetic and to differentiate between inherited v/s de novo genetic disorders. This test was also uninformative as the couple were not identified to have any changes in genes related to skeletal dysplasia, or any other genes. So, a hereditary issue was ruled out, with the exception of a small possibility of germline mosaicism. Germline mosaicism is a situation where the changes in the genes are limited to the germ cells, or sperm and egg, only. These changes are usually not picked up on regular genetic testing because they are present in a very small population of cells that are not being tested. Anyway, the point I’m trying to make is that both tests were uninformative. So now what? And why am I telling you about this couple? The couple were called for a post test counseling session where the test results were explained. In the absence of a confirmed genetic cause, the couple did not get the answers that they were looking for. And here’s why I am writing about this case - While we were discussing the options of follow up scans and closely monitoring the fetal growth parameters, the lady brought up the option to terminate the pregnancy because of her fears of losing the current pregnancy as well. This is where we need genetic counselors. As an observer to this case, I could sense that she was going through a lot of emotions including - Fear and anxiety about the possibility of another pregnancy loss or having a child with severe health issues. This fear was compounded by the previous two losses and the unknowns associated with the current pregnancy. Grief and sadness about already having endured the heartbreak of losing two pregnancies, which is a significant emotional burden. The thought of facing another loss had amplified her grief. Confusion and uncertainty due to lack of a confirmed diagnosis. Stress and overwhelm on managing the emotional, physical, and medical aspects of recurrent pregnancy losses, especially when facing the complexities of genetic testing and counseling. A genetic counselor is well-suited to address these emotions for several reasons: Specialized Knowledge : Genetic counselors have extensive training in genetics, genetic testing, and hereditary conditions. They can provide clear, accurate information to help the couple understand their situation and the implications of their test results. Emotional Support : Genetic counselors are trained to offer empathetic support, helping individuals process complex emotions and providing a safe space to discuss their fears and concerns. Decision-Making Assistance: They can guide the couple through their options, helping them make informed decisions about their pregnancy based on the available information and their personal values and preferences. Resource Provision : Genetic counselors can connect the couple with additional resources, such as support groups, mental health professionals, and specialists in maternal-fetal medicine, to provide comprehensive care. Risk Assessment : They can help assess the risk of recurrence and explain the probabilities in a way that is understandable, which can help the couple manage their expectations and plan for the future. Continued Care: Genetic counselors often provide ongoing support throughout the pregnancy and beyond, ensuring that the couple receives the help they need at different stages of their journey. It’s been over 3 years and I still remember this session. It illustrates the profound impact that recurrent pregnancy losses and uncertain genetic test results can have on a couple's emotional and psychological well-being. By addressing both the informational and emotional needs of the couple, we, as genetic counselors, play a crucial role in helping couples, families and individuals navigate the challenges of recurrent pregnancy losses and the uncertainties of genetic testing. That’s my first case for this series and I hope you liked it! Is there anything you would have done differently? Let me know! Best, Simran.

Hello there! Welcome to the first blog post of TheGeneScene. Deciding my first blog post was a challenge. After a lot of thinking, I decided that it should be about who are genetic counselors and why do we need them? Not the most original, I know. But I got to start somewhere. Genetic Counselors are healthcare professionals trained in genetics along with counseling (duh!) - we are taught to be empathetic and non-judgmental, to break down complex medical jargon and give you a safe space to talk about your feelings. You may not have control over what genes you inherit but you can certainly do your best to understand and make the most out of them. There are over 7000 rare disorders. And while genetic counselors are trained to work with these rare and uncommon conditions resulting from defects in the genetic makeup, there are so many other genetic disorders becoming increasingly common and need genetic counselors. Let me tell you why - Example #1 - In today's world, infertility is a pressing issue. Now imagine a couple visiting a physician for infertility or recurrent pregnancy losses. This could be due to a variety of issues. However, while most of the non-genetic causes can be treated with minor procedures or medication, there are no such options for genetic disorders. If the infertility or pregnancy loss is due to a chromosomal issue, healthcare providers have to find a way to work around it. This can lead to feelings of guilt, helplessness and despair along with differences between the couple. While clinicians do their best to address these issues, they are pressed for time. Genetic counselors understand these medical issues. So while they break down the cause for you and explain the intricacies, they will also discuss the couple's emotions and help them process their feelings. Example #2 - Breast cancer is one of the most common cancers in India, with a prevalence rate of 25.8 cases per 100,000 people. A diagnosis of cancer in a family member can lead to a wave of mixed emotions. Cancers like breast, ovarian, stomach, colon, pancreas, prostate and some others can run in families through generations with multiple people being affected in each generation. An inherited cancer adds an additional layer of emotional complexity. Again, genetic counselors can assess the risk of additional family members of developing cancer and address the feelings of fear and uncertainty. Example #3 - Neurodevelopmental disorders like autism, global developmental delay, speech delay can have a genetic etiology. Having a neurodivergent child can be a challenge in itself. A genetic diagnosis can help in identifying the exact cause of the disorder and improve management outcomes. Genetic counselors can help you in identifying the right test for your child and walk you through the results. They're here for you to understand your emotions and navigate your journey as parents. They can also help you understand the recurrence risk for the disorders. Example #4 - Pregnancies are a period of joy and hope with countless dreams attached. As such, getting a high risk screening result or identification of an ultrasound abnormality can trigger feelings like fear and anxiety, which, if not addressed, has also been shown to have an impact on the baby. Having practiced in a fetal medicine clinic myself, I have first hand experience of how stressful even the smallest hiccup can be. There is also a heightened sense of uneasiness while waiting for the confirmatory results. Throughout all this, a genetic counselor can help manage the emotions the right way Example #5 - Genetic counselors are great healthcare providers to get in touch with, not just in case of a diagnosis or disorder, but also to understand an individual's genetic makeup for nutrition, wellness and overall health. So what I'm trying to say is that genetic counselors are here to provide a safe space for you to discuss your feelings and emotions surrounding your genes while also understanding the medical aspect of the situation and giving you a comprehensive picture. Let me give you an example - A couple came to the clinic after a history of a failed IVF cycle. Their reason for opting for IVF was a previous pregnancy with Trisomy 18. Trisomy 18, or Edwards syndrome, occurs due to an extra copy of chromosome 18, usually as an accident. The recurrence risk for this in subsequent pregnancies is very low, especially with normal karyotype reports of both partners, which was also the case here. So essentially, there was no need for the couple to undergo IVF. Anyone who has undergone IVF will agree that it is not an easy process. However, this couple was coming from a place of lack of information and fear that the next child will also have Edwards syndrome. So they chose the difficulties of an IVF cycle over having to lose another pregnancy. One genetic counseling session was enough to address their fears and give them the correct information about recurrence risk. Genetic counselors can make a world of difference to your journey related to your genes. That's all for my first post, people. For those of you who made it to the end of this, thank you. You're very kind. I hope to get better at this over time. Until then, I'm grateful for your support. Lots of love, Simran.