On this page:

• Are home DNA kits reliable?
• Home DNA kits don't have all the answers
• Will DNA testing affect your life insurance?
• Privacy and your DNA
• Can you handle the truth?
• Skeletons in the closet (like, literally)
• Upselling your genes

Once you’ve bought the kit, you simply send in a sample of your saliva and then wait for the results.

Ancestry.com promises to give you “sense of identity”, while MyDNA claims to help “people make better health, wellness and lifestyle decisions using your DNA results”.

We take a look at what you need to consider before you spit in that tube and send it away to a lab, and what the experts think about home DNA testing.

Are home DNA kits reliable?

This is what the experts say:

Genetics counsellor and academic says:

“If people are doing it with the appropriate support it may have some value, but only if it’s done with a GP or a doctor who can reassure you and can point you in the right direction. But these tests are being rolled out too soon – they are commercial decisions being done by private companies with financial interests.”

Dietitian says:

“While genetic testing can provide some information, in many cases it doesn’t provide the full picture. While more education and understanding in this area is great for patients, it doesn’t necessarily have to mean direct-to-consumer testing, and not straight off the bat.”

GP says:

“Gene tests promise the world, but deliver very little. Uninterpretable results muddy the waters and can even have a negative impact on patient care.”

Home DNA kits don’t have all the answers

Associate professor Kristine Barlow-Stewart specialises in genetic counselling and genetic medicine at The University of Sydney. She says it’s important that people understand the limitations of consumer commercial DNA testing.

“While there’s no doubt an organisation like Ancestry and others use good science, you will get different results from different companies because of the reference DNA that they are comparing you to,” she says. “You are being compared to the data population they have, which isn’t everyone. This is why you can send your DNA to different companies and get different results.”

When it comes to health DNA testing, Barlow-Stewart says genes don’t hold all the answers or responsibility when it comes to health issues. “Take breast cancer for example, genes contribute just five to ten percent. The rest is from something else we don’t know.”

The same goes for nutrition. “With nutrigenetic variations, the environment, such as diet, still plays a large role in overall health outcomes,” says Melissa Adamski, who works in private practice as an accredited practising dietitian and also at Monash University’s Department of Nutrition and Dietetics. “And with weight loss, it’s so difficult to get the full picture from genetics alone, so while genes play a part, weight is multifactorial and other factors should also be considered.”

It’s all in the interpretation

While the experts we spoke to agreed that there’s plenty our genes can tell us, they all agree that the findings often beget more questions than answers.

Adamski says that when it comes to DNA and nutrition, genes are important but testing doesn’t necessarily provide the entire picture.”In some cases genetics can play a role in guiding nutrition requirements, and going forward it may mean we have different dietary requirements based on information from our genes,” she says. “[So] the current one-size-fits-all government recommendations may need to be tailored to each individual. But the other side of this is that a lot of the time with DNA, the more we dig the more complex it gets and we end up with more questions than answers.”

Adamski says a major challenge is finding a health professional best suited to interpreting gene tests. “There’s no perfect medical professional to deal with it at the moment.”

She says that while dietitians now understand how genes are playing a role in diet and weight management, they’re not geneticists, while a geneticist can interpret the results but can’t guide you in what to do. “You need a multidisciplinary team. Not all health professionals have the training yet – it’s still so new.”

Will DNA testing affect your life insurance?

One of the biggest issues to consider before embarking on any health, fitness or diet-related DNA tests in Australia is that the results may affect your ability to secure or claim life insurance.

Currently if you have genetic test results, even if they were done online and where the scientific evidence might be a bit wobbly, you must disclose that information if it’s requested. And any results that could indicate a risk of disease can be used against you by the life insurers in a variety of ways, from increasing premiums to denying claims.

In April 2018, a which looked at the life insurance industry made a recommendation regarding the use of predictive genetic information. They recommended that, in consultation with the Australian Genetic Non-Discrimination Working Group, the Financial Services Council – the peak lobby group for life insurers – assess the consumer impact of imposing a moratorium on life insurers using this kind of information except where it was provided by the consumer to demonstrate they’re not at risk of developing a disease.

This recommendation, and the report overall didn’t really focus on good consumer protection. Instead, the onus is on the industry to self-regulate wherever possible.

ÌÇÐÄVlog policy and campaigns advisor Xavier O’Halloran says it’s concerning that people don’t know the impact of getting these tests done. “For people who don’t know this, it can affect their ability to get life insurance. For those who do know, there is a huge health risk that they may not want to get genetic tests done for fear it will impact their access to life insurance.”

Privacy and your DNA

While some companies offer the option to destroy your data or de-identify it by removing your name, address and other details, others may require you to plough through complicated terms and conditions to find out exactly what you’ve agreed to.

Barlow-Stewart says sending your DNA to a commercial facility is like joining Facebook. “Many of these online testing companies retain the information indefinitely. You can request that the data is destroyed, but if the company is overseas it can be hard to do. You need to read the fine print.”

Ancestry recently updated it’s privacy policy and states that it doesn’t claim any ownership rights in the DNA that is submitted for testing. Yet critics of the update have pointed out another clause that makes it clear that despite this, the organisation still owns the ‘rights’ to it. Confused? That’s probably the point.

And while some companies make assurances about de-identifying your data, Barlow-Stewart says that may not be enough to protect your privacy.

“Even though they say that they are de-identifying your data, there are concerns about whether you can truly be totally de-identified because there is a lot of capacity to know hair colour, eye colour and face shape from your DNA. And if you have a rare genetic condition you are in an even smaller pool. You may be easily identified despite having your name removed.”

Can you handle the truth?

When it comes to the results of your DNA tests, what may seem like a bit of harmless fun has the potential to be a real headache, particularly when it’s any kind of DNA health testing.

Sydney GP Dr Brad McKay says he’s had a few patients come in with DNA tests relating to health or medication that have caused them stress, even if the results didn’t indicate a specific health issue.

In a recent article for the Royal Australian College of General Practitioners, associate professor Grant Blashki (who sat on an advisory committee looking at genomics in General Practice) was quoted as saying GPs could play a vital role helping patients understand the evidence base, including developing a ‘healthy scepticism’ about extravagant claims. “It is important in advance that patients consider who is going to be assisting with interpretation once the tests are done,” he says.

But genomics veteran Barlow-Stewart says this is easier said than done. “This is a new field and many GPs are not trained to interpret the data. Many companies are saying they can put you in touch with a genetic counsellor but they are overseas, or it’s on the phone and there might be charges.”

She says GPs often refer patients to a genetic counsellor, but that there can be long waiting times. “They are going to be sitting waiting and getting very stressed out about the results. We are seeing a big upswing in people wanting to see genetic counsellors – and in many cases we are dealing with the ‘worried well’.”

Skeletons in the closet (like, literally)

Police investigators in the US recently arrested a serial rapist and murderer who had evaded detection for almost 40 years. And it was all thanks to a DNA test done by an unsuspecting relative who was interested in their ancestry.

When a relative of the alleged “Golden State killer” Joseph James DeAngelo posted their DNA on an open-source genealogical site used by people wanting to know more about their family heritage, little did they know that police were painstakingly trying to match DNA collected from crime scenes with DNA profiles that have been posted in the public domain. Unbelievably they made a match between the two, and as a result DeAngelo has been charged with 12 murders.

While most of us probably won’t encounter this situation, it’s a timely reminder that if you’re considering DNA testing of any kind you need to be prepared for the results. From unknown siblings and dubious paternity rights to the knowledge that you might develop serious health issues, these are all possibilities once you sign up for a $99 test.

Upselling your genes

As more genetic tests become available, some online DNA testing companies offer the option of holding on to your data and letting you know when there are more opportunities for new tests and refined results.

Both MyDNA and Ancestry state in their terms and conditions that you’ll be sporadically contacted with updates when more information becomes available, on anything from newly discovered relatives to new results on health issues. While this sounds helpful, some users may get more than they wished for.

With organisations like 23andme in the US now offering ancestry testing as well as health testing, it’s easy to see how customers can be upsold in the future. At the time of writing you can order a combined ancestry and health kit for $139 USD (plus another 30% off and free gift wrapping for Fathers Day) which offers a massive 75+ health reports that range from genetic health risks to “Carrier status” for inherited diseases. Finding out you’re the genetic carrier for cystic fibrosis is a long way from wondering which part of Europe your dad’s family came from.

And even without the genetic upselling, engaging with these companies is a gateway to good old-fashioned upselling too. Since we sent a DNA test from ÌÇÐÄVlog to Ancestry we’ve received a number of emails offering discounted tests for family and friends with the tagline “the more you test, the more you can discover. Each additional family member you test can reveal new details about your family story”.

The post Are home DNA kits reliable? appeared first on ÌÇÐÄVlog.

On this page:

• DIY genetic testing
• Screen for Life
• DEXA body composition scan scan
• Full-body CT scans
• The tests you should have

Here, ÌÇÐÄVlog explains the issues with the following screening services, which are being offered directly to consumers without a medical referral.

Government-funded vs direct-to-consumer screening

The government funds various screens and tests recommended for people at various ages and life stages, as well as general health indicators such as blood pressure, blood sugar and blood cholesterol levels. The government funds these tests because the health benefits for Australians and health system cost savings are calculated to outweigh the costs of supplying the tests. But advances in medical technology and lower costs of equipment have seen many common diagnostic procedures and technologies being used to screen for diseases and conditions in people without any symptoms.

No referral needed

By offering these services directly to consumers, patients and service providers can bypass patients’ regular doctors and other health professionals. However, while applauding this proactive approach to looking after health, many medical professionals have concerns.

The main problem with such screening is that it may provide false reassurance that there are no problems, with implied permission to carry on as normal, even if that includes risky lifestyle and behaviours (diet, alcohol consumption, inactivity and so on). Or, it may find something suspicious, which will be followed up by invasive testing, accompanied by stress and anxiety that turns out to be unfounded.

On the other hand, a small percentage of people will benefit from the early detection of a disease or condition they were completely unaware of, potentially saving lives. This small payoff against a huge cost isn’t enough to make the government bean-counters recommend the screens to everyone, but individuals who can afford it may feel the potential benefits outweigh the risks.

DIY genetic testing

There are many legitimate reasons for genetic testing, which traditionally has been carried out through a private doctor or the public hospital system.

Medical genetic testing usually requires referral from a medical practitioner as well as pre- and post-test counselling, and a majority of tests occur through the public hospital system with geneticists and counsellors on hand. The purpose of the test and the implications for the patient (and their family) must be explained to them, and the patient must provide informed consent. Medicare covers the cost of some genetic tests.

Genetic testing can be used to predict an individual’s risk of disease when there is a family history of it. An example is the BRCA1 or BRCA2 gene mutations that indicate increased risk of breast and ovarian cancer, which may prompt more frequent screening (mammograms) or risk reduction surgery (such as a preventative double mastectomy).

Genetic testing can also be used to predict treatment response – for example, certain gene mutations in forms of cancer (breast, colon and melanoma) indicate susceptibility to particular treatment drugs. These drugs may be expensive or have undesirable side effects and shouldn’t be used when patients are not likely to benefit.

Now consumers can undertake their own testing by buying kits online, providing a DNA sample from the comfort of their own home, posting it off to a lab and finding out all manner of genetic information, such as:

• ancestry (for establishing paternity, for example)
• genetic quirks (sneezing when you look at a bright light)
• talents (athletic proclivities)
• health information (susceptibility to diseases and conditions).

It’s this direct-to-consumer genetic testing, which bypasses the normal checks and balances of the health system testing, that’s raising concerns.

Should I get a DNA test?

Doctors and other health professionals have raised a number of concerns about DIY DNA testing:

• Companies doing testing may be located offshore and not follow the same stringent test procedures and interpretation or analysis as Australian laboratories. This may mean inaccurate, unclear or misleading results.
• GPs are under no obligation to interpret, accept or act upon results of these genetic tests. If they results are inaccurate, unclear or misleading, the GP would be held liable for any issues arising from information or advice they gave you on the basis of the results.
• There may also be privacy issues, where privacy laws in other countries are different to our own. Some people get around this by providing a false name.
• Any information you discover may also affect family members, so consider the implications and how you share information.
• Genes don’t tell the whole story. Even if you have a genetic predisposition to certain health problems, such as type 2 diabetes or obesity, your lifestyle can determine whether genes get a chance to act.
• For now only a small fraction of the genetic contribution to common diseases has been identified, so a genetic profile won’t give you the big picture.
• If you have a predictive genetic test or a test for a condition or disease for which you have no symptoms, you have a duty to inform life insurers if applying for a new policy or changing an existing one.
• Some clinics are offering less well-established tests for commercial benefit. For example, some natural medicine clinics will conduct DNA testing to determine special nutritional needs you may have, then helpfully sell you the supplements to meet these needs, which may or may not be real.

The (HGSA) encourages consumers considering DNA testing to discuss this with their healthcare provider, consider the potential negatives, and, should they decide to go ahead, choose a test provider that abides by practical and ethical principles based on best practice.

Screen for Life

A private company called Screen for Life sends letters to people in their fifties, offering cardiovascular ultrasound screening. With its tagline, “prevention for peace of mind”, the company claims they can detect potential risk factors for stroke, heart attack and aneurysm, allowing you to take preventative action – or else give you the all-clear and peace of mind.

The letter itself is quite alarming, pointing out that stroke “is the second leading cause of death in Australia”, and that even if it doesn’t kill you, it “can leave you unable to walk, talk, or take care of your most basic bodily needs”. A package of four screenings costs $199 (not covered by Medicare or private health insurance), but “the reassurance of a health screening can be priceless”.

The screenings have undoubtedly helped some people who were able to take action to prevent a serious health event. However, critics point out that while there’s no harm (apart from the cost), it can provide false reassurance or cause unnecessary alarm.

And there’s little evidence such screening reduces the risk of stroke. For example, one test is a scan of the carotid arteries in the neck, where plaque deposits can stiffen and clog arteries, leading to stroke. But health experts point out that many people have evidence of hardening arteries without an increased risk of stroke. It could also provide false reassurance, leading people to think they have no risk factors and continue their unhealthy lifestyle habits.

Screen for Life says the service is conducted by appropriate health professionals, although it has been criticised for taking place in settings such as church halls and RSL clubs that aren’t under control of a registered health organisation. The stresses it has no links with Screen for Life, saying it doesn’t recommend unnecessary tests and that if you have concerns to see your GP.

DEXA body composition scan scan

The newish kid on the screening block is the DEXA (dual energy X-ray absorptiometry) body scan. A DEXA scanner produces two X-ray beams, one with high and one with low energy, which pass through bone to different degrees to measure bone density.

DEXA scanning has been used for a long time to measure bone density and risk of osteoporosis, but clinics are now offering it to measure body composition (muscle and body fat). In particular, they’re targeting bodybuilders and people trying to improve their health and fitness by measuring actual changes in body composition, which can help people determine whether their particular exercise program is having the desired effect. Some offer the services of an exercise physiologist as well.

You don’t need a doctor’s referral for a DEXA body composition scan, and it’s not covered by Medicare, although your private health insurer may cover a consultation with an exercise physiologist.

Full-body CT scans

Popular in the early 2000s, full-body CT scans were promoted to people without any symptoms of illness or disease risk factors. Thanks to increased regulation they’re less common now, but are still around and also available overseas to medical tourists. Depending on the country, providers may be less well-regulated than their Australian counterparts, so Australian government and health authorities continue to warn against them.

Said to be able to detect early signs of diseases such as cancer and cardiovascular disease, full-body CT scan advocates claim the diseases can be treated more effectively if discovered early. And studies have found that rate of cancers among apparently healthy people who request full-body scans is around two to five per cent – so that small percentage of people is theoretically better off having had the scan.

However:

• for someone lacking signs or symptoms of disease, it is unlikely to detect a serious disease early enough to treat it and alter the outcome significantly
• CT scans can return suspicious findings that turn out to be harmless – for example, scar tissue from an old infection, calcifications, cysts and nodules. Doctors have even coined the term “incidentalomas” for benign lesions found incidentally through scanning when there are no symptoms or other suspicions. Meanwhile, the patient undergoes more invasive and expensive testing, suffering the fear and anxiety that accompanies the threat of a potentially serious problem
• exposure to CT radiation during a full-body scan is about 500 times that of a chest X-ray. This is associated with a small increase in risk of cancer
• full-body scans may also miss hidden cancers, wrongly leading the patient to think everything is fine and that they don’t need to see their doctor or have other specific screening tests (mammograms, bowel and prostate cancer screening, for example)
• they’re expensive, and aren’t covered by Medicare or private health insurance.

CT scans are a useful diagnostic tool for cancers, and when used in targeted areas, the radiation risks are outweighed by the potential benefits of treatment. But for screening the “worried well”, the risks outweigh the benefits.

The tests you should have

These mainstream screening tests are recommended for the relevant people:

• Mammogram for breast cancer. Recommended every two years for women aged 50-74.
• Faecal occult blood test for bowel cancer. Provided by the government for people aged 50, 55, 60 and 65.
• Bone mineral density (BMD) scan for osteoporosis. Recommended for women at the start of menopause, for women after menopause and for men according to medical advice (based on risk).
• Pap smear for cervical cancer. Recommended every two years for women over 18 who’ve ever had sex.

Other useful screening tests include:

• blood pressure test for hypertension
• blood lipid screening for cholesterol and triglycerides
• blood glucose test for type 2 diabetes
• vision and eye health, including cataracts (a clouding of the lens), macular degeneration (the macular is the very central area of the retina) and glaucoma (a group of diseases where the optic nerve is gradually destroyed).

A test to consider:

• PSA and rectal examination. Some recommend once a year for men aged 50-70 to detect prostate cancer, but this is controversial, and health professionals recommend you speak to your doctor about the risks and benefits of screening.

The post Direct-to-consumer health screening appeared first on ÌÇÐÄVlog.