Hay , iam a undergraduate genetic student , I have a thorough understanding in the theoretical aspects of genetics. Iam planning to do medical Genetics in future. The main problem with me that I don't have a computational background/knowledge. I don't know where and how to start studying programming and gaining analytical skill . Can somebody please help , and give some recommendations including books , online course or other resources to start studying. Iam mainly looking for the genome sequencing, data analysis etc

Hi all,

I am considering a biochemical genetics fellowship. Anybody with a word of advice as to what to look out for while applying to programs? Any experience with specific institutions? And any program where a J1 waiver can be done?

Thanks in advance!

Hi all - I’m an incoming Clinical Genetics fellow (physician) starting this July. I am wondering if there are any other Reddit groups that are more active and/or specifically geared towards physician fellows. I’m specifically interested in finding information about study resources, the ITE and sharing educational experiences during fellowship. Thank you!

Hi, I was offered carrier screening for my 2nd pregnancy (a girl, I have one living daughter) and am POSITIVE for a premutation size 66 CGG repeat allele and a normal size 20 allele in the FMR1 genes. Waiting for the report on AGG interruptions. Just wondering the implications and feeling kinda awful about passing this on to future generations 😣 I guess it’s pretty likely they will be premutation carriers as well, and may have expansions and possibly even the full mutation, not sure the odds on that. Is it possible they would have none at all? I scheduled a call with a genetic counselor but it’s 3 weeks out. Any info would be appreciated or anyone with personal experience.

I actually was born and diagnosed with cri du chat ad a baby and I have it mild but that "person" on tik tok is giving cri du chat a very bad name.

if you haven't been on tik tok or don't have it then you won't know of the "person"

If any chinese students from Medical Faculy with own funding looking for a PhD project in Human Genetics at the Medical Faculty of a German University, drop me a message. I will get back to you soon.

MD here. Would I be eligible for the LGG fellowships without residency training?

ABMGG website specifically states that MDs need at least 1 year of residency for Clinical Genetics and Genomics but there is no mention of residency for Clinical Biochemical Genetics and LGG.

I've always been interested in ways to combine my experiences in basic science research and my degree in medicine but was only able to utilize one of them at a time and in a limited fashion. I first worked in a wet lab after not matching and then moved to clinical trials. Although I did enjoy working in both fields, I fear that I don't see a clear career progression in either. My current job in clinical research pays pretty well but most of my work is administrative and I only rarely get to use my medical knowledge, if at all.

I somehow never considered clinical genetics/lab medicine as a field that I could get into until now. I spent yesterday and today reading everything I can about this field in between my job and so far it sounds amazing. I'm definitely considering doing a residency in either pathology or medical genetics and even a PhD. At the same time, I'm also wondering if there are other paths forward since both options would take at least 4 years and most likely be a significant pay cut from my current position.

Thanks for reading, and I look forward to hearing your perspective!

I live in Ontario and my doctor recommended genetic testing for me two years ago after hearing about some of my family history. Today I got a call to schedule a generic counselling phone call in April.

Has anyone had one of these phone consults before? What do they ask and discuss with you? What happens if they deem it necessary to do testing. What does it entail?

I just received results from my Pharmacogenetic test. I believe that it indicates that I have "High Sensitivity" to, what I am guessing, is drugs that impact the CYP2C Cluster, which based on my reading includes mental health drugs, but I don't actually know what "high sensitivity" means.

Does it mean that if there is a side effect to be had, I am likely to have it? This has been my experience, but I'm not sure if the test confirms this.

Can someone please help?

Here is what it says:

• Gene: CYP2C Cluster (NC_000019.9)
• Variants: g.96405502G>A (also wondering what is meant by variants here. Is there something wrong with this particular gene?)
• Zygosity: Heterozygous
• Phenotype: High Sensitivity

Not asking for advice, asking for someone to make this make sense for me.

I have had genetic testing done and am a CYP2 D6 intermediate metabolizer. This has proven true to me with SSRI's as they stack up in my system and caused me to become manic or, as with Wellbutrin, psychotic. On my genesite test, it says I can use most amphetamines as directed. I recently started Adderall instant release and wanted to start very low and go very slow due to how other drugs I have taken in the past metabolized through 2D6 have affected me. This includes past recreational use of MDMA and psilocybin… Not recommended.

In any case I am finding the Adderall is like coffee to me and even at 30 mg is in and out within a couple of hours. I have no real side effects… My heart rate has not really increased a whole lot and I'm even sleeping better. I feel less anxious and less depressed. I am a little confused why Adderall is wearing off so quickly with no side effects but if I took a Prozac for two days would be a hallucinating ball of panic attacks I am an ultra rapid metabolizer of cyp 219 however which does explain my rapid metabolism for coffee. Thoughts?

COMT High Activity VAL/VAL This patient is homozygous for the Val allele of the Val158Met polymorphism in the catechol-o-methyltransferase gene. Carriers of this genotype are more likely to have a typical response to stimulant medications.

ADRA2A Typical Response C/G This patient is heterozygous for the -1291G>C polymorphism in the adrenergic alpha-2A receptor gene. They have one copy of the G allele and one copy of the C allele. This genotype suggests a typical response to certain ADHD medications.

PHARMACOKINETIC GENES PK Intermediate Metabolizer CYP2D6 1/4 CYP2D61 allele enzyme activity: Normal CYP2D64 allele enzyme activity: None This genotype is most consistent with the intermediate metabolizer phenotype. This patient may have reduced enzyme activity as compared to individuals with the normal phenotype.

I'm not on any 2d6 inhibitors, other than caffeine sometimes; I also take magnesium, ashwaganda, omega oils, estradiol (had a radical hysterectomy), Ativan prn. 44f, healthy weight and no medical conditions. I'm an RN and the clarity I do have when the Adderall works is life-changing. It definitely works and works well… Just not for long.

My genetics counselor tested me for fh mutation & it is positive and pathogenic. I am curious how long it typically takes counselors to be able to go over results? Is it far fetched to think it should be a fairly quick conversation (20-30min) on what’s next since we basically went over everything at the first visit?

The UK's NHS has a NIPD test [1] for CAH, and there have been several studies which have successfully completed NIPD tests for CAH. It just doesn't appear to be commercially available, is there any way to perform this test in the US via a private lab?

The US alternative is an amniocentesis, but it takes an extra couple months, not something you want when planning to TMR is the results are positive.

[1] https://www.england.nhs.uk/publication/national-genomic-test-directories/

In a case (human) with confirmed mutation of IFT-140 we see a phenotype somewhat consistent with mutation of TSC-2 mutation. Both genes are located on 16p.13.3 according to literarure. Would you say it is likely that both genes are affected, due to their proximity? On phenotype of IFT-140 mutation there is only few reports, so chances are the phenotype can be attributed to IFT-140 mutation alone. I am not really into genetics and I have no feeling for the likelyhood of mutations of multiple genes in relation to their proximity - it just sounds to me as they were located damn close and the phenotype kind of fits. Would you say it is more likely to have these two genes being mutated together or to have a case of so far unreported phenotypic characteristics in a not too well studied (~100 cases) mutation? I should add IFT140 is not a big deal healthwise, but TSC-2 porognosis is bad. Phenotype with multiple (some large) bilateral cystic lesions in renal MRI and multiple cystic lung lesions in CT.

Thank you for hints!

Dear all

I have gone through the comprehensive carrier testing from Invitae.

My partner is the kind who prefers having all knowledge available so when my doctor offered us whole genome sequencing (WGS), he wanted to do it. After we discussed, I said yes to doing it too.

A big motivation for us doing the WGS test is that the doctor had kindly signed us up as research participants in a genetic study he was doing, so the WGS test, that would otherwise cost about $5,100 for us, is free. More information at no monetary cost seemed like a good deal for my partner who is a little health-anxious. Upon discussion, I understood where he was coming from and decided to go ahead with it too.

However, I am so anxious about the results. Because it is done via a research study, the results will take about 4-5 months to come back. Doing the Invitae test for 560+ genes was already so scary for me, so this WGS where all 20,000 genes are tested is so scary.

Is there an associated mutation / disease for every of the 20,000 genes?

How does a WGS report look like? What information do we get from it?

Is there a chance we will not be carriers for anything?

Is there a chance we will not be carriers of the same thing?

I guess I am just looking for comfort and support as I go through this waiting period. Any and all experience would help, or perhaps a kind word. If you have done WGS or carrier testing etc, please feel free to comment or even DM.

Thank you for reading!

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Hello everyone. I am making this because I am interested in the field (i’ve decided it’s either genetics or orthopedics). I plan to become a medical geneticist/genetic specialist. I had needed surgery done a few years ago and my surgeon wanted a genetic diagnosis beforehand, the problem was i needed the surgery within the next few months and the soonest I could get into genetics was 18 months. (That’s why I deicded on it, see a need fill a need :) )

I am currently a highschool student taking dual credits, I will be graduating with my associates degree in biomedical sciences. As for college, I set my sights on either UW or Baylor and want to pursue genetics there.

Is there anything you guys wish you knew when you were where I am now? What does your salary look like and where is your general location? Things you love/hate about the job(s)? Tell me everything, please! I’d love to listen to you all.

Hi, can anyone share free or low cost cat 1 CEUs available for genetic counselors online? Thanks!

Hi all. I lost my first pregnancy due to Trisomy 18.

I lost my second pregnancy last week - cause is unknown. Waiting on amnio results and full genetic testing. But the NIPT came back clean for Trisomy 18.

I was just wondering if anyone has seen multiple pregnancies end due to genetic reasons? I’m 30 years old but 2 for 2. My doctor told me it’s likely a fluke. But I feel like I’m seeing a pattern?

Mostly looking for advice on what type of questions to ask a geneticist when I meet them to help understand why this is happening. Or if anyone in this community has seen this before and knows the cause.

Hi, I have to analyze a SNP-array data made in Genome Studio of Illumina. Can you offer me a guideline? I have very little time.

Hi everyone, I've been trying to get a diagnosis since I was two years old. I have pretty bad chronic pain and many other complications. I got an EDS panel done which showed I have a VUS on COL12A1 gene. I spoke with a genetic counselor yesterday who says my history does not show any symptoms for any conditions associated with problems with this gene. Her clinic refuses to work with me any further and they will not give me any referrals.

Here is the summary from the genetic counselor I spoke to:

{me} is a 25 y.o. female with a variant of unknown significance in the COL12A1 gene, c.5230C>T.  The COL12A1 gene is associated with autosomal dominant Bethlem myopathy 2, and autosomal recessive Ullrich congenital muscular dystrophy 2.  The COL12A1 gene is also associated with autosomal dominant and recessive myopathic Ehlers-Danlos syndrome.  Additionally, the COL12A1 gene has preliminary evidence supporting a correlation with autosomal dominant hypermobile Ehlers-Danlos syndrome.  Invitae Laboratory is offering complimentary testing for up to two family members for that variant.

Is this something worth getting a second opinion on and/or pursuing? Or is my counselor right in that I probably do not have any conditions associated with this? Looking up the symptoms of mEDS and BM2, I feel like I DO have a lot of the symptoms. I feel that I may have failed to paint my entire history to her. I am in pain every day of my life and I am also starting the TTC journey, so I'd like to know.

What are my next steps?

I'm looking at a missense mutation in SNP rs1603362434. Silco predictors are relatively high: CAAD 26, Revel 0.723 and PolyPhen 0.997.

However research from Invitae states that this "missense variant is not expected to disrupt FLNA protein function with a negative predictive value of 95%".

My question is how to understand the discrepancy between silco and Invitate? Is this mutation likely to be benign despire the high silco readings?

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Invitae research:

"Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FLNA protein function with a negative predictive value of 95%."

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Does anyone have information about RARS2 gene, responsible for Pontocerebellar Hypoplasia Type 6?

I'm having a baby with a donor - the one I like is a carrier. I'm wondering what would be the chances of baby having this disease.

Hope I ain't being annoying with so many (dumb?) questions but for some reasons (mainly badly written material/notes) I have been having hard times in going through some topics. I have been going through a topic for weeks but still I understood nothing out of it. Could anyone explain the concept of mosaicism (particularly in relation to genetic diseases) like I'm 5 years old? Thank you so much

Hi there - my husband and I just (unexpectedly) found out we are pregnant for the first time ever. His balanced translocation is 46, XY,t(13,15)(q32;q13). I am terrified and awaiting my doctors appointment. But also trying to be grateful. Can anyone help with guidance? We have seen a genetic counselor before but not since we learned I am pregnant. Thank you in advance!

Hello,

I recently completed a 23 and me test which was mostly unsurprising. However, I discovered that I have a homozygous variant on the GJB2 gene. This is the M34T variant. My understanding is that the fact this is a variant means that this is a 'variation' within a gene, basically an allele, is that correct? Does this mean then that I've inherited two copies of this variation from each parent, meaning both were at least carriers?

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I've found conflicting information online about whether or not this actually causes problems too. Some sources seem to think this can cause problems in a dominant pattern, most seem to think it's recessive and some seem to think that any combination doesn't cause issues. Can someone explain the current consensus on this please?

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Thanks for any help you can give me on this.