Category Archives: Genetics

Lung Cancer Research Foundation Joins Lung Cancer Advocacy Organizations and 23andMe to Launch Lung Cancer Genetics Study to Advance Research – PR…

Lung Cancer Research Foundation Joins Lung Cancer Advocacy Organizations and 23andMe to Launch Lung Cancer Genetics Study to Advance Research  PR Newswire

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Lung Cancer Research Foundation Joins Lung Cancer Advocacy Organizations and 23andMe to Launch Lung Cancer Genetics Study to Advance Research - PR...

Estonians gave their DNA to science now they’re learning their genetic secrets – Nature.com

One-fifth of Estonians now have access to information about genetic variants that could increase their chances of certain illnesses.Credit: Ints Vikmanis/Shutterstock

While much of Europe is obsessing over this years European Football Championships, many Estonians whose team didnt qualify are absorbed in their own genomes.

This month, the 210,000 Estonians who have contributed samples to the countrys biobank around 20% of the adult population were given the opportunity to learn about some of their genetic traits, including disease risk, ancestry markers and how they handle caffeine.

Worlds biggest set of human genome sequences opens to scientists

So many people flocked to the online portal that parts of it crashed soon after it launched. Genetic literacy in the Estonian population is maybe higher than elsewhere, says Lili Milani, head of the Estonian Biobank and a pharmacogenomicist at the University of Tartu. The interest is really high.

The project is one of the worlds biggest efforts to return genetic results to research participants most biobanks do not provide such information. One reason for sharing the results, say scientists, is to recognize the value that participants contribute. People have donated their data for this research, and they want something back, says Andrea Ganna, a statistical geneticist at the University of Helsinki. Its a no-brainer. We need to do it and participants want it.

The Estonian Biobank was created by a 2000 law that mandated that the database would allow participants to access their genetic data. But informing so many people about their genomes is easier said than done.

At first, specialists individually counselled participants with a high genetic risk of certain conditions, including breast cancer and cardiovascular disease, or with rare gene variants that affect how they metabolize drugs. But these recall studies reached only 5,000 participants, says Milani. We cannot do face-to-face consultations for 200,000 people.

The biobanks online portal provides more limited insights, but the emphasis is still on data that participants can use to improve their health. As well as information about cardiovascular disease and type 2 diabetes based on factors including hundreds of thousands of DNA variants, Estonians receive advice about how losing weight and making other lifestyle changes can cut disease risk. We know genetic risk alone doesnt tell you much. You need to put this in the context of your lifestyle, says Milani.

Australian biobank repatriates hundreds of legacy Indigenous blood samples

The portal also informs participants about genetic influences on how their body handles medicines, such as certain blood thinners, and other substances. Milanis own results show she carries a gene variant that slows the breakdown of caffeine, amplifying its effects. I had one coffee yesterday and couldnt sleep. Its been a bit hectic with the launch of the portal, she says.

More than 75,000 biobank participants have already visited the website, showing that interest is high, says Milani. (A measure of Neanderthal ancestry that the biobank provides has been trending on Estonian social media.) To measure the effects of receiving health-related information, Milani and her colleagues plan to compare the future health of participants who log into the portal with that of those who dont.

The hope, anticipation and expectation is that this should improve peoples health care, says Dan Roden, a cardiologist and clinical pharmacologist working on personalized medicine at Vanderbilt University in Nashville, Tennessee.

The Estonian Biobank data release is part of a growing trend among population health studies. The US-government-funded All of Us study which aims to collect genome and health data from more than one million people from diverse backgrounds has communicated genetic results to more than 100,000 participants, with the goal to give all participants the opportunity to receive this information eventually.

The study examines a set of 59 genes for genetic variations linked to diseases that can be treated or prevented. The 3% of participants who carry any of these mutations receive genetic counselling to learn about the results, says Heidi Rehm, a clinical genomicist at Massachusetts General Hospital in Boston who is part of All of Us.

An inside look at the first pig biobank

If weve got their genomes and theres really critical information in there, particularly that our researchers may study, it seems unfair not to also let them have it, she adds. Participants who dont have any of these mutations can see the results online and can still request a meeting with a genetic counsellor.

To be able to show results to participants, All of Us had to jump through several hoops including getting a stamp of approval from the US Food and Drug Administration, which regulates genetic testing. The Estonian programme, Milani says, went through two years of back-and-forth communication with an ethics review board.

Another challenge is funding, says Ganna. Tasks such as contacting participants by post could cost hundreds of thousands of euros.

Returning genetic results is an ongoing process, says Roden. As scientists understanding of the links between genetics and health change, so should the information participants receive. Youre never at the end of this voyage, Roden says. I admire the Estonians, and I think it is a wonderful experiment, a wonderful way of moving genome science forward.

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Estonians gave their DNA to science now they're learning their genetic secrets - Nature.com

Genetic clues to depression revealed in large study – PsyPost

The core experiences of depression changes in energy, activity, thinking and mood have been described for more than 10,000 years. The word depression has been used for about 350 years.

Given this long history, it may surprise you that experts dont agree about what depression is, how to define it or what causes it.

But many experts do agree that depression is not one thing. Its a large family of illnesses with different causes and mechanisms. This makes choosing the best treatment for each person challenging.

One strategy is to search for sub-types of depression and see whether they might do better with different kinds of treatments. One example is contrasting reactive depression with endogenous depression.

Reactive depression (also thought of as social or psychological depression) is presented as being triggered by exposure to stressful life events. These might be being assaulted or losing a loved one an understandable reaction to an outside trigger.

Endogenous depression (also thought of as biological or genetic depression) is proposed to be caused by something inside, such as genes or brain chemistry.

Many people working clinically in mental health accept this sub-typing. You might have read about this online.

But we think this approach is way too simple.

While stressful life events and genes may, individually, contribute to causing depression, they also interact to increase the risk of someone developing depression. And evidence shows that there is a genetic component to being exposed to stressors. Some genes affect things such as personality. Some affect how we interact with our environments.

Our team set out to look at the role of genes and stressors to see if classifying depression as reactive or endogenous was valid.

In the Australian Genetics of Depression Study, people with depression answered surveys about exposure to stressful life events. We analysed DNA from their saliva samples to calculate their genetic risk for mental disorders.

Our question was simple. Does genetic risk for depression, bipolar disorder, schizophrenia, ADHD, anxiety and neuroticism (a personality trait) influence peoples reported exposure to stressful life events?

You may be wondering why we bothered calculating the genetic risk for mental disorders in people who already have depression. Every person has genetic variants linked to mental disorders. Some people have more, some less. Even people who already have depression might have a low genetic risk for it. These people may have developed their particular depression from some other constellation of causes.

We looked at the genetic risk of conditions other than depression for a couple of reasons. First, genetic variants linked to depression overlap with those linked to other mental disorders. Second, two people with depression may have completely different genetic variants. So we wanted to cast a wide net to look at a wider spectrum of genetic variants linked to mental disorders.

If reactive and endogenous depression sub-types are valid, wed expect people with a lower genetic component to their depression (the reactive group) would report more stressful life events. And wed expect those with a higher genetic component (the endogenous group) would report fewer stressful life events.

But after studying more than 14,000 people with depression we found the opposite.

We found people at higher genetic risk for depression, anxiety, ADHD or schizophrenia say theyve been exposed to more stressors.

Assault with a weapon, sexual assault, accidents, legal and financial troubles, and childhood abuse and neglect, were all more common in people with a higher genetic risk of depression, anxiety, ADHD or schizophrenia.

These associations were not strongly influenced by peoples age, sex or relationships with family. We didnt look at other factors that may influence these associations, such as socioeconomic status. We also relied on peoples memory of past events, which may not be accurate.

Genetic risk for mental disorders changes peoples sensitivity to the environment.

Imagine two people, one with a high genetic risk for depression, one with a low risk. They both lose their jobs. The genetically vulnerable person experiences the job loss as a threat to their self-worth and social status. There is a sense of shame and despair. They cant bring themselves to look for another job for fear of losing it too. For the other, the job loss feels less about them and more about the company. These two people internalise the event differently and remember it differently.

Genetic risk for mental disorders also might make it more likely people find themselves in environments where bad things happen. For example, a higher genetic risk for depression might affect self-worth, making people more likely to get into dysfunctional relationships which then go badly.

First, it confirms genes and environments are not independent. Genes influence the environments we end up in, and what then happens. Genes also influence how we react to those events.

Second, our study doesnt support a distinction between reactive and endogenous depression. Genes and environments have a complex interplay. Most cases of depression are a mix of genetics, biology and stressors.

Third, people with depression who appear to have a stronger genetic component to their depression report their lives are punctuated by more serious stressors.

So clinically, people with higher genetic vulnerability might benefit from learning specific techniques to manage their stress. This might help some people reduce their chance of developing depression in the first place. It might also help some people with depression reduce their ongoing exposure to stressors.

This article is republished from The Conversation under a Creative Commons license. Read the original article.

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Genetic clues to depression revealed in large study - PsyPost