{"product_id":"why-so-many-patients-with-movement-disorders-never-get-genetic-testing-and-what-could-change-that","title":"Why So Many Patients With Movement Disorders Never Get Genetic Testing — and What Could Change That","description":"\u003cp\u003eGenetic testing can now identify a specific genetic cause in up to 15% of people with Parkinson's disease and in many other movement disorders, yet it remains underused in everyday clinical practice. This review examines the main barriers: cost and limited insurance coverage, unequal access that hits low- and middle-income countries and minority groups hardest, gaps in clinician knowledge, limited access to genetic counselling, and persistent patient and doctor fears about genetic discrimination. Encouragingly, large international projects such as PD GENEration, ROPAD and the Global Parkinson's Genetics Program have already delivered free, clinically accredited genetic testing and counselling to thousands of patients, proving that widespread testing is achievable. The authors conclude that governments, specialty societies and health insurers must act together to make genetic testing a routine part of movement disorder care.\u003c\/p\u003e\n\n\u003ch1\u003eWhy So Many Patients With Movement Disorders Never Get Genetic Testing — and What Could Change That\u003c\/h1\u003e\n\n\u003ch2\u003eTable of Contents\u003c\/h2\u003e\n\u003cul\u003e\n\u003cli\u003e\u003ca href=\"#ddn-key-points\"\u003eKey Points\u003c\/a\u003e\u003c\/li\u003e\n\n\u003cli\u003e\u003ca href=\"#background\"\u003eBackground: Why Genetic Testing Matters in Movement Disorders\u003c\/a\u003e\u003c\/li\u003e\n\u003cli\u003e\u003ca href=\"#recognising\"\u003eRecognising Who Should Be Offered Genetic Testing\u003c\/a\u003e\u003c\/li\u003e\n\u003cli\u003e\u003ca href=\"#clinician\"\u003eHow Clinician Attitudes Create a Barrier\u003c\/a\u003e\u003c\/li\u003e\n\u003cli\u003e\u003ca href=\"#cost\"\u003eCost, Availability and Access to Testing\u003c\/a\u003e\u003c\/li\u003e\n\u003cli\u003e\u003ca href=\"#methodology\"\u003eChoosing the Right Genetic Test\u003c\/a\u003e\u003c\/li\u003e\n\u003cli\u003e\u003ca href=\"#counselling\"\u003eAccess to Genetic Counselling\u003c\/a\u003e\u003c\/li\u003e\n\u003cli\u003e\u003ca href=\"#discrimination\"\u003eFear of Genetic Discrimination\u003c\/a\u003e\u003c\/li\u003e\n\u003cli\u003e\u003ca href=\"#pathway\"\u003eThe Pathway Forward: What Could Fix These Barriers\u003c\/a\u003e\u003c\/li\u003e\n\u003cli\u003e\u003ca href=\"#implications\"\u003eWhat This Means for Patients\u003c\/a\u003e\u003c\/li\u003e\n\u003cli\u003e\u003ca href=\"#limitations\"\u003eLimitations of This Review\u003c\/a\u003e\u003c\/li\u003e\n\u003cli\u003e\u003ca href=\"#recommendations\"\u003ePractical Recommendations for Patients\u003c\/a\u003e\u003c\/li\u003e\n\u003cli\u003e\u003ca href=\"#ddn-faq\"\u003eFrequently Asked Questions\u003c\/a\u003e\u003c\/li\u003e\n\u003cli\u003e\u003ca href=\"#source\"\u003eSource Information\u003c\/a\u003e\u003c\/li\u003e\n\u003c\/ul\u003e\n\n\u003c!-- ddn:keypoints:start --\u003e\n\u003ch2 id=\"ddn-key-points\"\u003eKey Points\u003c\/h2\u003e\n\u003cul\u003e\n\u003cli\u003eUp to 15% of people with Parkinson's disease carry a reportable genetic variant, according to the ROPAD and PD GENEration studies.\u003c\/li\u003e\n\u003cli\u003eBarriers to testing include cost, unequal access, clinician knowledge gaps, limited counselling, and fears about genetic discrimination.\u003c\/li\u003e\n\u003cli\u003eIn a large Italian longitudinal study, Parkinson's patients with GBA1 variants had good motor benefit from deep brain stimulation but worsening cognition over three years.\u003c\/li\u003e\n\u003cli\u003eMore than half of surveyed International Parkinson and Movement Disorder Society members reported low or no access to genetic counselling in their region.\u003c\/li\u003e\n\u003cli\u003eResearch programmes such as ROPAD, PD GENEration and the Global Parkinson's Genetics Program have provided free, clinically accredited testing and counselling.\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003c!-- ddn:keypoints:end --\u003e\n\n\n\u003ch2 id=\"background\"\u003eBackground: Why Genetic Testing Matters in Movement Disorders\u003c\/h2\u003e\n\n\u003cp\u003eOver the past few decades, genetic testing has transformed how doctors diagnose a wide range of movement disorders — conditions that affect a person's ability to control movement, such as tremor, stiffness, slowness and unsteady walking. Testing is clearly valuable for disorders with straightforward inherited patterns, such as Huntington's disease (HD, a progressive inherited brain disorder).\u003c\/p\u003e\n\n\u003cp\u003eIncreasingly, it also matters for conditions long thought to be \"sporadic,\" meaning they appear without any family history. Parkinson's disease (PD) is the best example. Testing is not only improving diagnosis rates. It is also opening the door to treatment. A growing number of symptom-relieving and disease-modifying therapies (treatments that aim to slow the disease itself) are being developed for genetic movement disorders.\u003c\/p\u003e\n\n\u003cp\u003eDespite this clear value, significant obstacles stand in the way of routine and widespread use of genetic testing in clinical practice. This review explores those barriers — from financial and technical considerations to complex social and demographic factors, and to worries about genetic discrimination.\u003c\/p\u003e\n\n\u003ch2 id=\"recognising\"\u003eRecognising Who Should Be Offered Genetic Testing\u003c\/h2\u003e\n\n\u003cp\u003eThe first step in genetic diagnosis is simple: a doctor has to think of it. The list of movement disorders that may benefit from genetic testing keeps growing, and clinical guidelines need regular updating to keep clinicians informed.\u003c\/p\u003e\n\n\u003cp\u003eParkinson's disease was traditionally considered sporadic and \"idiopathic\" (of unknown cause). Two large recent studies changed that picture. The ROPAD study (Rostock Parkinson's Disease study) and the PD GENEration study together found a reportable genetic variant in up to 15% of all PD patients — roughly 1 in every 7 people with Parkinson's. In ROPAD, which used a 50-gene panel covering PD and related conditions, the diagnostic yield was 14.8%. In PD GENEration, which used a 7-gene PD panel with genetic counselling, the yield was 13%. These results have led to calls for genetic testing to become routine care for every patient with Parkinson's disease.\u003c\/p\u003e\n\n\u003cp\u003eDeciding when and in whom to test — to maximise the chance of finding an answer while keeping costs reasonable — differs by disorder, because each has a different genetic architecture (the pattern of genes involved).\u003c\/p\u003e\n\n\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eDystonia\u003c\/strong\u003e (involuntary muscle contractions causing twisting postures): a scoring algorithm combining age of onset, which body areas are affected, and whether other non-dystonic neurologic features are present can predict the diagnostic yield from whole exome sequencing. This helps guide which patients to test.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eOther movement disorders\u003c\/strong\u003e: in the absence of validated scoring systems, doctors can use similar clinical clues — age of onset, the presence of other features, and family history.\u003c\/li\u003e\n\u003c\/ul\u003e\n\n\u003ch2 id=\"clinician\"\u003eHow Clinician Attitudes Create a Barrier\u003c\/h2\u003e\n\n\u003cp\u003eWhat doctors believe about genetic testing strongly influences whether they order it. A 2019 survey of North American movement disorder specialists in the Parkinson Study Group (PSG) found that a commonly cited reason for not testing PD patients was a perceived lack of usefulness — particularly for making treatment decisions.\u003c\/p\u003e\n\n\u003cp\u003eThat perception is not entirely accurate. It is true that no gene-specific PD treatments are currently approved. Even so, knowing a patient's genetic status can still shape care. For example, PD patients who carry \u003cstrong\u003eGBA1 variants\u003c\/strong\u003e (changes in a gene linked to a higher risk of Parkinson's) appear to face an increased risk of cognitive decline after deep brain stimulation (DBS) of the subthalamic nucleus — a surgical treatment that implants electrodes deep in the brain — even though they still get good motor (movement) benefit. A large Italian longitudinal study showed that these patients gained good motor improvement from DBS but experienced worsening cognition in the three years afterwards. As a result, some experts propose that genetic testing should be offered to PD patients before DBS surgery, so that the risks and benefits can be discussed honestly beforehand.\u003c\/p\u003e\n\n\u003cp\u003eAnother practical benefit is access. Many clinical trials are currently running or planned for genetic forms of PD, especially those involving GBA1 and LRRK2. Genetic testing determines who can join them. Testing can also inform prognosis, guide reproductive decisions, and improve access to support services.\u003c\/p\u003e\n\n\u003cp\u003eThe same 2019 PSG survey found that clinicians often believed their PD patients did not want genetic testing. The evidence says otherwise. Survey-based studies of patients with PD have consistently shown that the \u003cstrong\u003emajority of patients with PD are interested\u003c\/strong\u003e in undergoing genetic testing. This gap between what doctors assume and what patients actually want suggests a need for better clinician education.\u003c\/p\u003e\n\n\u003ch2 id=\"cost\"\u003eCost, Availability and Access to Testing\u003c\/h2\u003e\n\n\u003cp\u003eGenetic testing has become more available and gradually cheaper over time. Yet access problems and cost or health insurance coverage remain major barriers, according to movement disorder physicians. These barriers fall unevenly across the world.\u003c\/p\u003e\n\n\u003cp\u003eLow- and middle-income countries, which together hold the vast majority of the world's population, are hit hardest. But even within high-income countries, social and demographic factors shape who gets tested and how quickly.\u003c\/p\u003e\n\n\u003cul\u003e\n\u003cli\u003eA recent American study found that marginalised and minoritised demographic groups were \u003cstrong\u003ehalf as likely\u003c\/strong\u003e to be evaluated by a neurogenetic service — a 50% lower chance — even though they benefit equally from genetic testing.\u003c\/li\u003e\n\u003cli\u003eThe ENROL-HD study reported that in North America, Black patients with Huntington's disease were diagnosed \u003cstrong\u003e1 year later\u003c\/strong\u003e than non-Hispanic White patients with HD. The authors suggest delayed access to HD genetic testing and counselling may contribute to this gap.\u003c\/li\u003e\n\u003cli\u003eLow neighbourhood socioeconomic resource levels are linked to lower attendance at clinical genetics outpatient appointments.\u003c\/li\u003e\n\u003cli\u003eLimited English proficiency among patients and their families appears to delay access to genetic services.\u003c\/li\u003e\n\u003c\/ul\u003e\n\n\u003cp\u003eWhere local infrastructure and funding are lacking, research collaborations offer another route to testing. The ROPAD and PD GENEration projects delivered free, clinically accredited genetic testing and counselling to patients with PD on a massive scale. That proves large-scale delivery is possible.\u003c\/p\u003e\n\n\u003ch2 id=\"methodology\"\u003eChoosing the Right Genetic Test\u003c\/h2\u003e\n\n\u003cp\u003eSelecting the right test is harder than it sounds. The number of genes linked to genetic movement disorders keeps growing, and different types of genetic changes require different sequencing technologies and different computer analyses.\u003c\/p\u003e\n\n\u003cp\u003eThese variant types include single nucleotide variants (a change in one \"letter\" of DNA), insertions and deletions (missing or extra DNA segments), copy number variants (extra or missing copies of larger DNA sections), and short tandem repeat (STR) expansions (stretches of repeated DNA that grow too long).\u003c\/p\u003e\n\n\u003cp\u003eMany doctors are unsure how to navigate this. In the 2019 PSG survey, \u003cstrong\u003e27% of respondents\u003c\/strong\u003e — about 1 in 4 — said they were unsure which test or laboratory to use for PD genetic testing. A 2021 study found that across commercial PD genetic tests, the number of genes tested ranged from \u003cstrong\u003e5 to 62\u003c\/strong\u003e, showing a clear need for consensus and standardisation.\u003c\/p\u003e\n\n\u003cp\u003eCost and availability must be weighed against diagnostic yield — the chance a test actually finds the cause.\u003c\/p\u003e\n\n\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eTargeted gene panels\u003c\/strong\u003e (testing a selected set of genes) are relatively cheap and are the most common test used by movement disorder physicians worldwide.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eExome sequencing\u003c\/strong\u003e (reading all protein-coding DNA) and \u003cstrong\u003egenome sequencing\u003c\/strong\u003e (reading nearly all DNA) are more comprehensive and more expensive. They are used far less often, but typically produce higher diagnostic yields.\u003c\/li\u003e\n\u003c\/ul\u003e\n\n\u003cp\u003eExome and genome sequencing have another advantage: stored data can be reanalysed later as new disease genes are discovered, without needing to re-sequence the patient. This reanalysis has been shown to improve diagnostic rates in several movement disorder datasets. A recent example is the discovery of \u003cstrong\u003eRAB32\u003c\/strong\u003e as a new gene for autosomal dominant PD (an inherited form where one altered gene copy is enough to cause disease), which was quickly confirmed by several other studies using reanalysis of existing exome or genome data. A patient who had only a targeted gene panel that never included RAB32 would not get this benefit.\u003c\/p\u003e\n\n\u003cp\u003eSome genetic changes escape standard next-generation sequencing (NGS) entirely. The recently described GAA STR expansion in the \u003cstrong\u003eFGF14\u003c\/strong\u003e gene causes spinocerebellar ataxia 27B (SCA27B), now increasingly recognised as a very common cause of late-onset ataxia (progressive problems with balance and coordination). Access to clinically accredited testing for this expansion is limited even in many high-income countries. In the United States, clinical testing for SCA27B is performed by only \u003cstrong\u003etwo diagnostic laboratories\u003c\/strong\u003e.\u003c\/p\u003e\n\n\u003cp\u003eOther newly identified STR expansions — including those causing spinocerebellar ataxia 4 and familial cortical myoclonic tremor with epilepsy — face the same problem. \u003cstrong\u003eLong-read sequencing\u003c\/strong\u003e is a newer method that can detect many STR expansions at once, along with other variants that standard NGS misses. It promises to streamline diagnosis. However, it is only just beginning to enter clinical use, and its limited availability and higher cost remain barriers.\u003c\/p\u003e\n\n\u003ch2 id=\"counselling\"\u003eAccess to Genetic Counselling\u003c\/h2\u003e\n\n\u003cp\u003eGenetic testing without genetic counselling is incomplete. Counselling helps patients understand what a result means, what it implies for family members, and what choices lie ahead. Yet access to counselling is a significant barrier in movement disorders.\u003c\/p\u003e\n\n\u003cp\u003eThe global genetic counselling workforce has grown in recent years. Even so, a recent survey of members of the International Parkinson and Movement Disorder Society (MDS) found that \u003cstrong\u003emore than half of respondents\u003c\/strong\u003e reported low or no access to genetic counselling in their region.\u003c\/p\u003e\n\n\u003cp\u003eNeurologists can provide counselling themselves, either instead of or alongside genetic counsellors and clinical geneticists. But in the 2019 PSG survey, only \u003cstrong\u003e50–60% of PD clinicians\u003c\/strong\u003e felt adequately equipped to do so. The PD GENEration study showed it can work: specifically trained neurologists successfully delivered genetic counselling and returned results to patients.\u003c\/p\u003e\n\n\u003cp\u003eTime is another obstacle. Proper, nuanced genetic counselling takes time — and movement disorder clinics are busy, with many competing priorities such as discussing the diagnosis, prognosis and treatments.\u003c\/p\u003e\n\n\u003ch2 id=\"discrimination\"\u003eFear of Genetic Discrimination\u003c\/h2\u003e\n\n\u003cp\u003eSome patients hesitate to be tested because they worry a genetic result could affect their job or their ability to get insurance. These concerns vary by ethnicity and by how much a person knows about genetics.\u003c\/p\u003e\n\n\u003cp\u003eA survey of American and Asian PD patients found that American patients were more likely to worry that genetic testing might affect their employability and their eligibility for health or life insurance. In both groups, these concerns were influenced by how much the patient understood about genetics.\u003c\/p\u003e\n\n\u003cp\u003ePatients are not alone in this. The PSG survey found that PD clinicians also worried about impacts on their patients' employability and insurability.\u003c\/p\u003e\n\n\u003cp\u003eMany countries have passed laws or industry regulations meant to prevent genetic discrimination. However, the real strength of these protections varies. Perceived or actual genetic discrimination continues to deter some patients from seeking testing despite these measures.\u003c\/p\u003e\n\n\u003ch2 id=\"pathway\"\u003eThe Pathway Forward: What Could Fix These Barriers\u003c\/h2\u003e\n\n\u003cp\u003eThe barriers are numerous, but the authors stress they are not insurmountable. Several concrete steps could help.\u003c\/p\u003e\n\n\u003col\u003e\n\u003cli\u003e\n\u003cstrong\u003eFalling costs.\u003c\/strong\u003e The price of genetic testing will likely continue to drop, improving accessibility over time.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eHealth economic analyses.\u003c\/strong\u003e Dedicated cost-effectiveness studies will likely be needed to convince governments and health insurers to reimburse both the test itself and the genetic counselling around it.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eInternational research collaborations.\u003c\/strong\u003e In the meantime, large collaborations offer testing where costs remain prohibitive. The Global Parkinson's Genetics Program (GP2) is a worldwide research collaboration offering free research genetic testing for PD patients, with a specific aim of involving patients traditionally underrepresented in research. Note that research results differ from clinical results in important ways, and returning them to participants requires specific strategies.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eBetter infrastructure.\u003c\/strong\u003e Standardising genetic testing procedures and expanding laboratory capacity — with higher-throughput assays and faster turnaround times — will improve access.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eNewer technologies.\u003c\/strong\u003e Adopting emerging methods such as long-read sequencing into clinical pipelines could streamline testing and deliver faster, more accurate results.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eA growing counselling workforce.\u003c\/strong\u003e The global genetic counselling workforce is expanding and must keep growing to meet demand. Telehealth counselling has been shown to be comparable to in-person counselling for several movement disorder groups, including patients with PD and HD — a practical way to close regional gaps.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eEducating clinicians.\u003c\/strong\u003e Formal training for movement disorder specialists and neurology trainees in genetic counselling and test selection is needed to prepare the workforce for rising demand.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eClinical practice guidelines.\u003c\/strong\u003e Guidelines from movement disorder societies and professional organisations on when and how to test, and how to counsel, will help embed testing into routine care. A recently published consensus guideline on counselling patients about GBA1 variants in PD — including a suggested counselling script — offers exactly this kind of practical guidance.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eStronger anti-discrimination protections.\u003c\/strong\u003e Expanding and enforcing regulations against genetic discrimination would reassure patients and clinicians that results will not harm employability or insurability.\u003c\/li\u003e\n\u003c\/ol\u003e\n\n\u003ch2 id=\"implications\"\u003eWhat This Means for Patients\u003c\/h2\u003e\n\n\u003cp\u003eIf you have a movement disorder, this review carries a clear message: you may be a candidate for genetic testing, and it is reasonable to ask about it. Up to 15% of people with Parkinson's disease — about 1 in 7 — carry a genetic variant worth reporting. In dystonia and other movement disorders, factors such as your age at symptom onset, the pattern of your symptoms and your family history can help your doctor decide.\u003c\/p\u003e\n\n\u003cp\u003eGenetic testing is not only about diagnosis. It can influence treatment choices (such as planning for deep brain stimulation), determine eligibility for clinical trials of new therapies, inform prognosis, guide family planning, and open access to support services.\u003c\/p\u003e\n\n\u003cp\u003eIf cost or access is a barrier where you live, research programmes and international collaborations may offer free testing. Ask your neurologist whether any such studies are recruiting in your area.\u003c\/p\u003e\n\n\u003ch2 id=\"limitations\"\u003eLimitations of This Review\u003c\/h2\u003e\n\n\u003cp\u003eThis is a narrative review — an expert summary of existing evidence — and not a new study. It did not collect original patient data or run new experiments. Several points should be kept in mind when interpreting its findings.\u003c\/p\u003e\n\n\u003cul\u003e\n\u003cli\u003eMuch of the evidence about clinician and patient attitudes comes from \u003cstrong\u003esurveys\u003c\/strong\u003e, which capture opinions and recollections rather than measured behaviour, and may not represent all doctors or patients.\u003c\/li\u003e\n\u003cli\u003eSeveral key findings come from \u003cstrong\u003eNorth American and other high-income settings\u003c\/strong\u003e, so the specific barriers and their size may differ in other regions.\u003c\/li\u003e\n\u003cli\u003eData on diagnostic yields come from \u003cstrong\u003especific study populations\u003c\/strong\u003e — people who enrolled in ROPAD and PD GENEration — who may not mirror the general movement disorder population.\u003c\/li\u003e\n\u003cli\u003eThe review describes \u003cstrong\u003efeasibility\u003c\/strong\u003e of large-scale testing programmes, but does not yet provide evidence that testing improves long-term patient outcomes — this remains to be proven as precision therapies are developed. Likewise, the suggested benefits such as earlier diagnosis and better access to precision treatments are expected consequences, not yet demonstrated results.\u003c\/li\u003e\n\u003cli\u003eCost figures and availability of tests change rapidly, so some practical details may become outdated.\u003c\/li\u003e\n\u003c\/ul\u003e\n\n\u003ch2 id=\"recommendations\"\u003ePractical Recommendations for Patients\u003c\/h2\u003e\n\n\u003col\u003e\n\u003cli\u003e\n\u003cstrong\u003eAsk about genetic testing.\u003c\/strong\u003e If you have Parkinson's disease, dystonia, ataxia or another movement disorder, ask your neurologist whether testing is appropriate for you — and why or why not.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eShare your family history.\u003c\/strong\u003e Details about relatives with similar symptoms help your doctor judge the likelihood that a genetic cause is present.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eRequest genetic counselling.\u003c\/strong\u003e Before and after testing, counselling helps you understand results and what they mean for your family. If no counsellor is available locally, ask about telehealth options.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eDiscuss the test choice.\u003c\/strong\u003e Ask whether a targeted gene panel, exome sequencing or genome sequencing is planned, and what the expected chance of finding an answer is. Broader testing can be reanalysed later as new genes are discovered.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eRaise any discrimination worries.\u003c\/strong\u003e If concerns about employment or insurance are stopping you, talk to your clinician about what protections exist in your country.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eLook into research programmes.\u003c\/strong\u003e Studies such as the Global Parkinson's Genetics Program and national Parkinson's genetics initiatives may provide free testing and counselling.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eKnow that testing is not just diagnostic.\u003c\/strong\u003e It can affect trial eligibility, treatment planning and, in some cases, prognosis — so a negative experience of \"no result\" still has value.\u003c\/li\u003e\n\u003c\/ol\u003e\n\n\u003c!-- ddn:faq:start --\u003e\n\u003ch2 id=\"ddn-faq\"\u003eFrequently Asked Questions\u003c\/h2\u003e\n\u003ch3\u003eHow common is a genetic cause in Parkinson's disease?\u003c\/h3\u003e\n\u003cp\u003eTwo large studies, ROPAD and PD GENEration, found a reportable genetic variant in up to 15% of people with Parkinson's disease — roughly 1 in 7. ROPAD used a 50-gene panel and found a yield of 14.8%; PD GENEration used a 7-gene panel with counselling and found 13%. These results have led to calls for routine testing.\u003c\/p\u003e\n\u003ch3\u003eWhat are the main barriers to getting genetic testing for a movement disorder?\u003c\/h3\u003e\n\u003cp\u003eReported barriers include cost and limited insurance coverage, unequal access that hits low- and middle-income countries and minority groups hardest, gaps in clinician knowledge, limited access to genetic counselling, and persistent patient and doctor fears about genetic discrimination. These barriers fall unevenly across the world and even within high-income countries.\u003c\/p\u003e\n\u003ch3\u003eDoes genetic testing change treatment for Parkinson's disease?\u003c\/h3\u003e\n\u003cp\u003eNo gene-specific Parkinson's treatments are currently approved. However, knowing genetic status can still shape care. For example, a large Italian longitudinal study found that patients with GBA1 variants who had deep brain stimulation of the subthalamic nucleus gained good motor improvement but experienced worsening cognition in the three years afterwards. Testing can also determine eligibility for clinical trials.\u003c\/p\u003e\n\u003ch3\u003eWhy might genetic testing be suggested before deep brain stimulation surgery?\u003c\/h3\u003e\n\u003cp\u003eA large Italian longitudinal study found that Parkinson's patients carrying GBA1 variants who had deep brain stimulation of the subthalamic nucleus still gained good motor benefit, but experienced worsening cognition in the three years afterwards. As a result, some experts propose offering genetic testing before DBS so risks and benefits can be discussed honestly beforehand.\u003c\/p\u003e\n\u003ch3\u003eWhat does genetic counselling involve and is it available?\u003c\/h3\u003e\n\u003cp\u003eCounselling helps patients understand what a result means, what it implies for family members, and what choices lie ahead. A survey of International Parkinson and Movement Disorder Society members found more than half reported low or no access to genetic counselling in their region. Telehealth counselling has been shown comparable to in-person counselling for several movement disorder groups, including Parkinson's and Huntington's disease.\u003c\/p\u003e\n\u003ch3\u003eCould a genetic test result affect my job or insurance?\u003c\/h3\u003e\n\u003cp\u003eSome patients hesitate to be tested because they worry a result could affect their job or ability to get insurance. A survey of American and Asian Parkinson's patients found American patients were more likely to worry about employability and eligibility for health or life insurance. Many countries have laws or regulations against genetic discrimination, but their real strength varies.\u003c\/p\u003e\n\u003ch3\u003eIf cost or access is a barrier, are there other ways to get tested?\u003c\/h3\u003e\n\u003cp\u003eLarge international research collaborations offer another route. The ROPAD and PD GENEration projects delivered free, clinically accredited genetic testing and counselling to patients with Parkinson's disease on a massive scale, proving large-scale delivery is possible. The Global Parkinson's Genetics Program offers free research genetic testing, with a specific aim of involving patients traditionally underrepresented in research.\u003c\/p\u003e\n\u003ch3\u003eI have Parkinson's disease and my neurologist says genetic testing isn't useful — should I get a second opinion before deep brain stimulation?\u003c\/h3\u003e\n\u003cp\u003eA second opinion is reasonable when genetic testing is dismissed as unhelpful. Up to 15% of people with Parkinson's disease carry a reportable genetic variant, and testing can shape care: carriers of GBA1 variants appear to face increased risk of cognitive decline after deep brain stimulation of the subthalamic nucleus, so some experts propose offering testing before that surgery. Testing also determines eligibility for trials of genetic therapies. Clinicians often assume patients do not want testing, yet most do. Diagnostic Detectives Network provides independent expert second opinions.\u003c\/p\u003e\n\u003c!-- ddn:faq:end --\u003e\n\n\u003ch2 id=\"source\"\u003eSource Information\u003c\/h2\u003e\n\n\u003cp\u003e\u003cstrong\u003eOriginal article title:\u003c\/strong\u003e Barriers to clinical genetic testing in movement disorders.\u003c\/p\u003e\n\n\u003cp\u003e\u003cstrong\u003eAuthors:\u003c\/strong\u003e Yeow D, Rudaks LI, Kumar KR.\u003c\/p\u003e\n\n\u003cp\u003e\u003cstrong\u003ePublication details:\u003c\/strong\u003e \u003cem\u003eCurrent Opinion in Neurology\u003c\/em\u003e, 2025, Volume 38, pages 355–360. DOI: 10.1097\/WCO.0000000000001381. Published by Wolters Kluwer Health, Inc. This is an open access article distributed under the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CC BY-NC-ND).\u003c\/p\u003e\n\n\u003cp\u003e\u003cstrong\u003eNote:\u003c\/strong\u003e This patient-friendly article is based on peer-reviewed research.\u003c\/p\u003e","brand":"DiagnosticDetectives.Com","offers":[{"title":"Default Title","offer_id":47797525315740,"sku":null,"price":0.0,"currency_code":"USD","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0599\/5449\/5644\/files\/ddn-medical-article-why-so-many-patients-with-movement-disorders-never-get-genetic-testing-and-what-could-change-that-hero.png?v=1791868995","url":"https:\/\/diagnosticdetectives.com\/ar\/products\/why-so-many-patients-with-movement-disorders-never-get-genetic-testing-and-what-could-change-that","provider":"DiagnosticDetectives.Com","version":"1.0","type":"link"}