I'm trying to be a variant analyst in diagnostics companies or hospital labs. After working in biomedical research and industry labs for more than a decade (since undergrad; 33 y.o. now), I just recently found out about and pivoted to variant curation. Since then I have been volunteering for the NIH ClinGen curation panels to build myself up for this kind of job.

I've landed a couple of interviews but didn't make it to job offers, and in a couple of others I still got rejected outright without phone screening. I think I can easily pass now the quizzes given to applicants (or I wouldn't have gotten the 2 interviews), if given the chance.

Any feedback on how to get more qualifications or on this 2-pager CV itself? (Link below). Can someone in the field rate how competitive it is? Admittedly only my last "role" shows my very recent pivot.

https://www.reddit.com/r/resumes/comments/1h0zqek/2_yoe_unemployed_biocuration_variant_analyst_usa/?utm_source=share&utm_medium=web3x&utm_name=web3xcss&utm_term=1&utm_content=share_button

I am about to enter the university, to the career of medicine. I am very interested in all the theory related to genetic manipulation (or genetic engineering, I think), inheritance and experimentation. Just because I'm passionate about it. I have been told that in medicine, even in the specialization of clinical genetics, I am not going to learn any of that; that I should study biology and specialize in genetics and that's it.

The problem is that in my region (I live in Italy) biology has very little job opportunities and the salary is not that good. I also think about my future; I feel that medicine gives me more opportunities (or maybe it's just a mistake of mine to think like that). Here the biology degree lasts 5 years and medicine 6 yrs. I was thinking of doing a PhD in genetics after finishing my degree (if I study biology, I think it would have to be the same) instead of doing a residency. Can anyone give me advice or tell me what you think about it?

Hi everyone! I’m a medical doctor nearing completion of my training as a medical genetics specialist in my home country. I’m exploring career opportunities in clinical genetics, with a focus on cancer and neuroscience research. There aren't many research opportunities in my home country so it seems like I'll have to move. I can't make the decision of which country to practice.

I can't move from place to place because medical licensure equivalency will take a lot of time. Research opportunities, salary and life quality, closeness to Europe if possible, and having a social life is important to me. My top candidates are UK and Germany so far, but it's hard to decide. I'm open to other suggestions.

Any advice on countries, cities, or institutions that might align with my preferences?

Thanks in advance!

i was born with hypotonia (fiber 1 myopathy found during muscle biopsy, but this was the early 00's). i was supposed to see a geneticist as a kid but was never taken. i have a multitude of diagnosed health issues; hypotonia, anxiety, ADHD, depression, POTS, stage 2 hypertension, ibs-c, and hypermobility.

suspecting i could possibly have some form of ehlers danlos syndrome, my doctor gave me a referral to clinical genetics. no known variants were found, but 2 of unknown significance were; C1S <941G>C (p.Ar9314Thr), and COL12A1 c.1741C>A p.Arg)8 Ser). C1S is apparently associated with periodontal EDS, and COL12A1 is associated with myopathic EDS (which would make sense).

my question is, where should i go from here? should i have further testing done in regards to a diagnosis? i was a bit confused while speaking to the geneticist and it doesnt sound like these variants qualify for a diagnosis from what they know currently. could just be hEDS but mEDS seems more plausible considering my congenital myopathy

Is it possible for one identical twin to have a genetic issue/mutation and not the other?

I have 13-month-old identical twin boys (mo/di), born at 36 weeks, no delivery complications. Both over 6lbs at birth. We did chromosome testing during pregnancy and everything came back normal.

After birth, Twin B needed extensive NICU time (63 days) for Respiratory Distress Syndrome, which had then turned into Chronic Lung Disease. They did some genetic testing in the NICU to see if it was a surfactant deficiency, genetic testing came back normal. He was eventually sent home on oxygen and weaned off completely about a month after coming home. He was also diagnosed with Auditory Neuropathy Spectrum Disorder around 4 months old.

Our newest hurdle with Twin B is hypotonia. He is in physical therapy but very delayed with motor skills.

We saw a geneticist shortly after leaving the NICU and they told us it would be very rare for one identical twin to have a genetic issue that the other twin does not have. However, since his delay in motor skills, our pediatrician is recommending we see genetics again. There is a long wait to see genetics this time, so I’m looking for my own info until then.

Twin A is normal hearing, normal muscle tone, hitting normal milestones. He did have a 20 day NICU stay also for RDS but required significantly less intervention and has had no medical issues since.

What are the chances, if any, that Twin B has a genetic disorder that Twin A did not inherit? I also have 3 other kids in addition to the twins (2 of which are full siblings to the twins), and all of them have been healthy and met all milestones on time if not early.

Edited to add: I also had a full genetic panel done when I was pregnant with our oldest as my husband has Maple Syrup Urine Disease. My genetic panel came back normal.

Hi all, I have no idea if this is the correct sub to ask about this, if not, please point me in a direction!

I'm doing a presentation on fanconi anemia in my hematology class, specifically the lab diagnostical aspect. I'm currently summarizing information about it and of course the chromosome breakage test is the gold standard test so I want to explain it well. I've read that some labs specifically require sodium heparin tubes instead of lithium heparin tubes (which is what I am used to) for this: Why?

Additionally if anyone can point me to any resources that describe the specific procedure, as well as other tests for the laboratory diagnosis of fanconi anemia, ideally with pictures on how to actually conduct the tests (like a step by step or something alike), I'd be really thankful!

Thanks in advance!

I’m almost 14 weeks pregnant with a baby boy. We are waiting on results from the CVS I had done almost 2 weeks ago. I know this condition can be much more severe in males, if not deadly. I’m at such a loss of what we will do if he is affected. Everything I read online is grim for males. However, I see stories on Reddit with men that didn’t know they had it until they were in their 30s. There are similar stories on my Facebook group for PVNH.

A little backstory on my family. I’m 28 years old and have PVNH due to an FLNA mutation. I’m completely asymptomatic. My 3 year old daughter also has PVNH and had one seizure at 16 months old. She’s been on Keppra twice daily since then and has not had another seizure. She is reaching all of her milestones and is a happy, silly, and loving little girl. If I were having a girl, I think I would continue the pregnancy regardless if she was affected or not. But because we don’t have any boys in our family with this condition, I don’t know what the outcome would be for this little one. I want so badly to have this child. We’ve wanted a son since our first pregnancy that ended in miscarriage (he was a boy). I want to experience being a boy mom, with all that comes with it! But I would never want to hold on to a child that would suffer his whole life and struggle on a daily basis.

If anyone has advice or information, it would be greatly appreciated. Thanks in advance!

We got an atypical finding/No Results for Monosomy X on our NIPT ("suspected finding outside the scope of the test involving the sex chromosome, which may include, but is not limited to, fetal mosacisism, fetal chromosome abnormality, maternal chromosome abnormality or normal variation").

I had my amnio 8 days ago and received our QF-PCR results two days later (all normal).

We're waiting for our microarray results but now I'm nervous about the fact that our MFM didn't order a karyotype. Is it too late to ask for that to be added? Is that even necessary at this point?

I want to make sure we're covering all bases and being as thorough as possible with testing.

Hi! I’m from the UK and I was wondering if anyone could help with any of their experiences or knowledge. At my 20 week scan they identified short long bones and I had growth scans every four weeks which remained short but he followed his own growth curve. We had an amino and this found nothing. We then had further genetic bloods after he was born and this was also normal. However, they have said this doesn’t exclude everything and we’re being referred to geneticists. He also has marginally low set ears and a slightly depressed nasal bridge. Most recently, he’s on the 75th percentile for weight and head size and length is on the 9th. Can this just be normal variance or something more? I’m 5’1 and my partner is 5’11. The doctor we saw did say she wouldn’t worry and this could just be normal for him. Thank you in advance! I know it’s incredibly complicated but I thought by now I would have some answers and I’m just incredibly worried.

Hi everyone. I'm looking for a company that I can order my own WES from.

I've looked through several other WES posts, but I've only seen companies that require a physician to make the order. The only doctor I'm seeing currently is a cardiologist who I don't believe would be interested in helping me get a test ordered, & I'd prefer to not have to wait a long time for an appointment with someone who would (assuming my doctor would even write a referral). My mom passed away earlier this year from a myriad of diseases (some I believe were misdiagnosed), so now I'm even more desperate to find answers to why my body is trying to kill me, & will I end up like her. Any help is greatly appreciated!

My daughter has a spontaneous genetic mutation a partial deletion in a gene I am terrified and wondering what can cause it as I am blaming myself because I don’t understand is it a random thing when in pregnancy does it occur ? Can early drinking before knowing you were pregnant it? Or malnutrition? I am a extremely healthy eater but I was severely sick my entire pregnancy Any answers would be appreciated my geneticist said nothing could of caused it but I still can’t let it go

I recently came across some information that suggests that I may have an intersex condition. Unfortunately it has been difficult to get testing out of my doctor due to a lack of medical necessity and I was wondering if there is some other route to perhaps ask a lab directly. Closest I've found was one of those ancestry services can sometimes find something but are not entirely reliable for this purpose.

A specialist clinic ordered a genetic test panel due to life-long symptoms that started to progress due to hormonal change. Thus there's some urgency. Turns out the wrong panel was ordered. For billing reasons the next test with the correct panel can only be done a year later due to how insurance works here. Basically: Damn!

The report states: Twist Human Comprehensive Exome + Mitochondrial Genome, Illumina R sequencing technology. Software: Varvis (Limbus Technologies). It looks like they extracted everything and simply used a filter for the genetic panel, thus as I understand it only software is needed to get to the genes that should have been investigated. It's just not accessible due to insurance issues. Due to processes I also can't pay for the the filtering and clinical letter myself as I wasn't the one who ordered the extraction and original panel, and the specialist clinic can't do that for me and send me the bill due to more process red tape.

A patient has the right to receive all their medical data here. If I requested all this data would I be able to do anything with it? Are there online services that I can use to look at the specific genes in question? In what format would the data be delivered anyway? I mean, the amount of data will be massive, and I bet it won't be as easy to use as e.g. 23andme raw data. Is it something like 'chromosome - location - result' that is then compared to a reference dataset that I won't have? Is it a database for which I need exactly the right software to see any raw data at all?

I wonder what are the pros and cons of various available sequencing services for whole genome (exome) sequencing in US.

My kid has depression, autism and some physical issues (like overweight, lactose intolerant etc). I am hoping that a relatively thorough genomic sequencing might shed new light to his struggle now or in the near future.

I hope that: 1. we will get the whole sequence in case we want to use different algorithm to research ; 2. covers the whole genome; 3. ideally, have services to match any known mutations. Ideally, if I found a new paper about autism and gene, I could look up that in his sequence.

Thank you

Nebula WGS has a great feature (gene analysis), which is a more credible version of Promethease in all regards. The problem with Nebula is that you must know what you are looking for to find it.

Anyone know of a credible (i.e., NOT Sequencing.Com, NOT DNA.Land, etc.) site that can simply highlight and rank the most significant mutations in a WGS file?

Nebula has the data, but it could take years to get it all using their website. A website that aggregates gene lists associated with disorders would also help.

Hi everyone, I had my anatomy scan at 20 weeks and a follow up at 23 weeks. Femur was measuring 5th percentile both times. I’m obviously terrified there is something wrong. I did have the NIPT which came back clear. Below are the results from 20 weeks - 23 weeks. Wondering if anyone has had similar readings and everything turned out ok? Doctor says all babies bones and organs look good. No other markers.

Head diameter (mm) 43.7 19% - 54.8 34% Head Circumference (mm) 163.3 9% - 212.6 48% Abdominal Circumference (mm) 132.4 11% - 167.8 11% Femur Length (mm) 27.8 5% - 36.3 5% Humerus Length (mm) 29.5 18% - 35.5 9% Estimated fetal weight (g) 253 4% - 457 7%

Hello. This is my first pregnancy. At 31 weeks I had a growth scan with MFM due to GDM. Baby’s femur measures <1% head 97% and humerus 12%. All organs are working fine and no bowing of any bones noted. Genetic counselor is leaning towards achondroplasia. Has anyone had a similar situation? What were your measurements?

My husband microarray report states LOH detected in the sample. What does it mean?

Would love to talk with people especially diagnosed with ARVC or familial hypercholesterolemia! But other secondary findings works as well! :)

My 21yo daughter has been going through hell the last couple of years. For background - When she was 10 she had a stroke and they found a pilocytic astrocytoma in her brain, and subsequently had it removed. She got really sick (hg) when she was pregnant. And since then, it's just one diagnosis after the next. Irritable bowel, multiple liver hemangiomas, intestinal intususcception with tumor (awaiting surgery), pelvic congestion syndrome, possible endometriosis, polycystic ovarian syndrome...it seems like everytime we go to the doctor it's something else. So much of this is vascular - it just seems to me that there is likely an overriding issue yet to be identified. And it's sooo multi-systems! Insurance won't cover genetic testing unless it's life threatening which is ridiculous. But I'd like to pursue private pay options. Prices are all over the place, reviews on sites are extremely mixed, and frankly I don't really know what she needs - and am having problems understanding the genetic world's language. If anyone has recommendations for what testing I'm looking for; and/or ethical labs to look into - I'd certainly appreciate the help.

Hi Everyone,

I’m a PhD student at Cumming School of Medicine at the University of Calgary seeking a short informational opinion (10 to 15 mins) for a health technology product focused on genetic risk profiling and expert-guided personalized wellness recommendations.

If you want to share your opinions, please email david.enoma@ucalgary.ca or text 5875827740 or here.

Thank you!

Hi. I am a master student in medical genetics in “Tabriz university of medical sciences” in “Iran” Im looking for a research partner to communicate and even writing paperes to raise our knowledge. Here is the list of my interested topics Medical genetics Cancer genomics Reproductive genetics Infertility Gene therapy Pharmacogenetics Personalized medicine Epigenetics Neurogenetics

Hi. I’ve recently become aware that a couple of deviations I have might be connected to this syndrome, albeit a mild version because the facial attributes aren’t very severe. Would love to hear more opinions if this seems likely or any other suggestions?

I have

• Skin tag in front of right ear
• Underdeveloped outer rim on both ears (looks like Stahl’s ear)
• Very flat and low set cheeckbones. Right one being more ”compressed”
• Right side of jaw being higher up than left one
• A ridge on top of the skull (saggital craniosyntosis?)
• Moderately severe scoliosis (40 degrees)
• A couple of autism-like traits but nothing diagnosed

My son is two and about six months ago we did genetic testing to rule out underlying genetics causing health issues. They discovered a few different things. This entire sequence deletion was their biggest concern. We are still waiting to hear back from the genetics counselor provided and I just wanted to see if anyone here knew what I might be able to expect. The full information they gave us is "entire coding sequence deletion of EIF2B2, heterozygous, pathogenic"

My 31mo son was diagnosed with a TLK2 de Novo mutation at 6w. He was in NICU due to other anatomical GI issues but with series of tests done that was found.

We f/u with genetics annually but I am struggling to find any research articles on much about it aside from the severe developmental delays. He has been in therapies since he was 8w and I am so happy of the progress he has been making with his gross motor skills, and since getting tubes in his ears nearly 5m ago his speech is coming along.

I also have a 18mo who doesn't have any health complications who I know for certain is challenging my eldest in healthy competition.

I just can't find any research with patients who are at his end of the spectrum of delays...and I'm not sure if this is good or bad? IDK I just would really like to know more about parents and caretakers experiences as well as a little more in depth of what a TLK2 mutation is in lamens terms.

TIA

Does anyone know anyone who has been diagnosed with salla disease? I know there are lots of cases in Finland and Sweden but it is rare in the UK