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From devices to bodies: a tale on DNA data collection

Watch the discussion at RightsCon Online about the rising collection of our DNA, increasingly becoming a key data source for police as well as private companies. The convergence of private data interests, the political climate in nations such as the US and Brazil, and the onset of the coronavirus pandemic are further fuelling the rise in data collection, raising concerns for abuses of power in the context of a lack of proper regulations across the world.

The conversation, joined by GeneWatch’s Executive Director Helen Wallace, covers some of the historical origins of genetic research, the overblown scientific claims made by private DNA companies, the necessary safeguards required to prevent miscarriages of justice, and recent international legal precedents limiting unfettered collection of innocent people’s DNA.

https://rightscon.course.tc/2020/events/from-devices-to-bodies-a-tale-on-dna-data-collection-fHjbwPWrNy5wV3jjPtE5s5

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Universal DNA Databases

Universal DNA databases: introduction

Blogs in this category aim to answer questions such as:

Can governments put their whole population on a DNA database?

Should every baby have their genes tested at birth?

Could DNA databases be used for multiple purposes?

Categories
DNA in medicine and research

DNA in medicine and research: introduction

The blogs in this section aim to answer questions such as:

What is a genetic disorder?

Are all cancers genetic?

Should my child have a genetic test?

How reliable are genetic test results?

Can the police get my DNA from a research database?

Will my DNA predict what diseases I can get?

Is my DNA important for my health?

Should I give my DNA to a research project?

Are there any conflicts of interest in genetic research?

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Your DNA as your ID?

Your DNA as your ID? Introduction

The blogs in this category will aim to answer questions such as:

Could my DNA be collected for a national ID database?

Can my DNA be used to identify my relatives?

Can my DNA be used to discriminate against me?

Categories
Commercial DNA tests

Commercial DNA tests: introduction

Blogs in this category will aim to answer questions such as:

Online DNA tests: should I read the small print?

How are genetic tests regulated?

Genetic tests are regulated differently depending on where you are and what the test is for. For example, the European Union recently created new laws to regulate genetic tests that are designed to give information on health related issues, such as genetic links to diseases,  or harmful reactions to pharmaceutical drugs. The new laws will come into force in 2022 and will require companies to show clinical evidence to back up any health claims that are made. Currently, there are no EU regulations in place to ensure that any of the health claims being made are clinically proven. 

In the US, some commercial tests require marketing authorisation from the Food and Drug Administration. Tests for ancestry, or those deemed as assessing wellness, such as those predicting athletic ability or impacts of lifestyle and dietary choices are not regulated.  Some oversight is given to tests designed to predict genetic risk to diseases such as cancers and Parkinson’s disease. Such regulations have forced companies to withdraw tests until they obtained market approval. For example, 23andMe withdrew its Parkinson’s test after the Food and Drug Administration requested they obtain authorisation, due to concerns it could prompt people to take unnecessary measures such as surgery as a result of inaccurate test results. 

How reliable are genetic test results?

Because genetic testing is generally underregulated, there is little requirement for companies to validate claims of ancestry, health or other characteristics such as personality and intelligence. Companies do not need to share their data, or information on the methods they use, making it impossible to assess the validity of their claims. Additionally, there are no agreed-upon standards of accuracy. 

As long as there is the misconception that genes are good predictors of most diseases or adverse drug reactions in most people, such tests will remain inaccurate and suffer scientific as well as commercial pitfalls. Huge scientific efforts and money have gone into sequencing entire human genomes to find genetic links to disease, including the famous Human Genome Project. However, the hype that this would define a future of genetics-based health solutions for common diseases, has not been delivered in reality. Multiple genetic differences between individuals have only small effects on the risk of common diseases. Further, gene tests cannot account for healthy or unhealthy lifestyles. A specific example is tests for type 2 diabetes. Companies offer genetic tests despite the fact that normal body weight is crucial for the prevention of type 2 diabetes, while genetic risk has been shown to be a bad predictor of disease risk beyond the known risks mediated by body mass index, age and sex. Advice by companies to shop based on their DNA test results instead of paying attention to their weight may thus be harmful instead of protective. 

Companies have often made misleading and even contradictory interpretations of people’s genetic risk for disease, highlighting the flimsiness of their claims. For health tests, attempts to make genetic risk prediction scores for diseases have not been commercially successful. Companies in the past have had to withdraw tests due to their lack of accuracy. For example, the company 23andMe has had to withdraw tests due to their inability to prove that they are able to predict an individual’s disease risk using computer algorithms. In 2019, UK doctors were advised by the Royal College of General Practitioners to ignore genetic tests from consumer tests due to the “very high chance of false positive or false negative results” from DTC genetic tests and “significant NHS costs in confirming (or more often refuting)” the results.  

People who send their DNA to several ancestry test companies have found that they have different ethnicities depending on the test they use. Inaccuracy will always plague the ancestry testing industry due to fundamental flaws in the underlying scientific logic of these tests and how they are interpreted (see XX DNA Basics).  

If I buy a DNA test online, is my information private?

The privacy policies of genetic testing companies vary widely, and the small print often goes unread. Some companies allow for sharing with third parties. Information may also be stored in data services such as cloud providers based across national borders. 

There are already examples of genetic ancestry test data being used by law enforcement in the United States. While some companies have policies that restrict law enforcement access, this may still occur with a court order, or perhaps without the company’s knowledge. There are fewer protections for your data with consumer testing kits than there would be if you were taking a medical test, which would be regulated differently. 

A recent example involves GEDMatch, a company where members can upload their DNA results from commercial companies. Police set up a fake account and uploaded a crime scene DNA profile to look for partial matches, identifying distant relatives, such as third cousins based on the family trees constructed by Ancestry.com’s graphics tool. Combining this with public information such as location of the crime scene, they identified two suspects, ruling out one, and identifying the other based on testing the DNA of both of them. GEDmatch was also hacked in 2020, accessing and exposing more than a million users’ profiles. Since then, a technical glitch in the database also resulted in previously deleted data being restored for two days. Privacy settings chosen by users, such as opting out of their data being accessible to police, was also overridden. This raises a serious question about whether such databases retain peoples’ data indefinitely, clearly without the consent of users who wish to be removed. 

Identifying people based on a DNA sample raises state surveillance concerns. What if the state wants to track down political dissidents rather than criminals? What if criminal gangs get hold of DNA information to track down victims such as witnesses, or someone fleeing domestic violence? 

The monetisation of data is increasing the sharing and transfer of information between companies and borders. A recent case is the sharing of DNA from a man, Michael Ursy, who had donated his DNA to a scientific organisation for research. His DNA information was passed on to police after the science organisation had been bought by Ancestry.com. The police obtained a warrant to have their databases searched for a crime case, finding a partial match, resulting in the arrest of his son who fitted the description of the suspect in terms of age and location. He was under suspicion for about a month until his DNA was found not to match the samples taken at the crime scene. Such examples show that your privacy is also dependent on whether or not your relatives give their DNA. Indeed, to deploy DNA surveillance across a group of people, it is estimated that only 2-5 % of a population’s profiles are needed, because biological relationships to the wider unprofiled population can be mapped from a small proportion of profiles. 

Unforeseen circumstances such as the bankruptcy of a company that has collected DNA, can add uncertainty as to where samples may end up. 

Because genetic testing is generally underregulated, there is little requirement for companies to validate claims of ancestry, health or other characteristics such as personality and intelligence. Companies do not need to share their data, or information on the methods they use, making it impossible to assess the validity of their claims. Additionally, there are no agreed-upon standards of accuracy. 

As long as there is the misconception that genes are good predictors of most diseases or adverse drug reactions in most people, such tests will remain inaccurate and suffer scientific as well as commercial pitfalls. Huge scientific efforts and money have gone into sequencing entire human genomes to find genetic links to disease, including the famous Human Genome Project. However, the hype that this would define a future of genetics-based health solutions for common diseases, has not been delivered in reality. Multiple genetic differences between individuals have only small effects on the risk of common diseases. Further, gene tests cannot account for healthy or unhealthy lifestyles. A specific example is tests for type 2 diabetes. Companies offer genetic tests despite the fact that normal body weight is crucial for the prevention of type 2 diabetes, while genetic risk has been shown to be a bad predictor of disease risk beyond the known risks mediated by body mass index, age and sex. Companies that advise people to shop based on their DNA test results instead of paying attention to their weight may thus be harmful instead of protective. 

Companies have often made misleading and even contradictory interpretations of people’s genetic risk for disease, highlighting the flimsiness of their claims. For health tests, attempts to make genetic risk prediction scores for diseases have not been commercially successful. Companies in the past have had to withdraw tests due to their lack of accuracy. For example, the company 23andMe has had to withdraw tests due to their inability to prove that they are able to predict an individual’s disease risk using computer algorithms. In 2019, UK doctors were advised by the Royal College of General Practitioners to ignore genetic tests from consumer tests due to the “very high chance of false positive or false negative results” from DTC genetic tests and “significant NHS costs in confirming (or more often refuting)” the results.  

People who send their DNA to several ancestry test companies have found that they have different ethnicities depending on the test they use. Inaccuracy will always plague the ancestry testing industry due to fundamental flaws in the underlying scientific logic of these tests and how they are interpreted (see XX DNA Basics).  

Will having a genetic test affect my insurance?

The rise of consumer genetic (in addition to health and research) testing raises concerns regarding how it may affect your ability to get insurance cover, such as health, life, critical illness or income protection insurance. Including genetic tests in insurance policies opens the door to companies refusing coverage, or asking for certain criteria to be met in order to maintain coverage, such as requiring people to take certain medications, surgery or adopt lifestyle changes. It also may put people off getting a test for a genetic condition due to fear of being refused insurance coverage, possibly increasing risks of illness.

Countries have differing levels of regulations to protect against genetic discrimination for insurance purposes. In the UK, there is currently a voluntary agreement between insurance companies and the government. This is called the ‘Code on Genetic Testing and Insurance’, agreed between the government and the Association of British Insurers. All members of the association automatically sign up to the code. Insurance providers should not ask anyone to provide test results, or to declare test results. There is one exception for clinical (not consumer test) diagnoses with regard to Huntington’s, a rare brain disease that is caused by a single mutation. Such results have to be declared to cover life insurance cover of over £500,000. You are however, allowed to submit negative tests results that may help with an application. Such a clause opens up the opportunity for preferential treatment for those deemed to have “good genetic profiles”.  Companies however, have not given up the principle that such policies could be introduced in the future, preferring self-regulation over legislation. Breaches of the agreement have occurred that highlight the limitations of the current agreement. For example, numerous leading insurers have been found in the past requesting information on Alzheimer’s disease genetic tests for house insurance on mortgages under £100,000. 

The current voluntary agreement may become increasingly inadequate in protecting against genetic discrimination in the future, with the rise in consumer testing, on top of a currently renewed focus on genomics research in the country. On the other hand, the fact that this is an open-ended agreement may offer opportunities to amend it as genetic technologies continue to evolve. 

In the EU, a recommendation was adopted in 2016 by the European Council that calls upon EU member countries to ensure that no genetic discrimination takes place, prohibiting that genetic data  be required for insurance cover. It also prohibits the use of existing genetic data from family members being processed for insurance purposes. Laws relating to general data protection, also prohibit the use of genetic data without the explicit consent of the person involved. 

Mexico has some of the stronger legislation to protect against genetic discrimination in general, taking a more human rights approach based on genetic characteristics in both their federal and healthcare laws.  Across other Latin American countries, there are few laws to directly protect against genetic discrimination, except for in Argentina and Chile. 

In Australia, there are no laws specifically for genetic discrimination for insurance or employment. Insurance companies are allowed to use genetic test results even if you do not have symptoms of a disease, in order to deny coverage for products such as life, house, disability and travel insurance, but not private health insurance. However, insurers must also consider risk-reducing measures such as surgery or health surveillance. Reports however show that even with the legal use of genetic discrimination by Insurers, breaches are still common with regard to people still having difficulties in getting insurance despite having undergone risk reduction measures such as surgery. Some public health and genetic researchers have called for a ban on this form of legal and illegal genetic discrimination in the country. With regard to life insurance, there are many 

In the US, where healthcare is privatised and insurance usually covered by the employer, a law was passed in 2008 (Genetic Information Nondiscrimination Act (‘GINA’)) to prevent health insurers from using genetic data to discriminate against you when it comes to health insurance. However, these protections do not apply to places of work with less than 15 employers.  Further exemptions apply for instance, once you become symptomatic for a disease. Insurers are thus not allowed to refuse cover to someone who has tested positive for an at risk gene, but this legal protection is then lost of cancer does develop. Such laws favour the insurers who are hesitant to accept applicants with pre-existing health conditions. The law also does not apply to life, disability or long-term care insurance, leaving significant gaps in protection. In such cases, life insurers for example, can request genetic information and retract a person’s contract if they hide test results. Someone who has tested positive for a gene that pre-disposes them to Alzheimer’s disease for example, will be uninsurable. However, some individual states have also added laws, and even where those do not apply, life insurers do not currently explicitly ask for such information. A complementary regulation designed to protect healthcare data privacy (Health Insurance Portability and Accountability Act of 1996) HIPAA, does not cover direct-to-consumer testing and health apps, being restricted to healthcare providers and related entities. 

Will having a genetic test lose me a job?

The use of genetic tests have brought concerns that people may be denied hiring or promotion opportunities, or lose their job as a result of an unfavourable genetic test result. Further, if you wish to file a work-related injury claim, employers may want to request genetic testing to minimise compensation claims, by attempting to associate the injury with a genetic predisposition of the person involved. 

In the US, a 2008 law was passed to protect against genetic discrimination, called the Genetic Information Nondiscrimination Act (GINA), designed to prevent discrimination for  employment or insurance. Before this law was enacted, there were cases where employers used genetic test results to inform hiring,  firing, reassigning as well as determining compensation for injuries. 

This law however, still does not block all forms of genetic discrimination. It does not apply to employers with less than 15 employees, though some individual state laws extend the protections to small employers. Employers are also engaging with direct-to-consumer testing companies to offer ‘personalised wellness’ programs sold as a means to improve healthy behaviour, and reduce the employers costs in health expenses. In such cases, they may request the information that is gained from the program. Though if the employee does not give consent for genetic testing as part of any such program, then they employer cannot then request access to such information. 

Over two-thirds of states also have laws to prevent genetic discrimination in employment, though the scope and approach varies. For example, in Idaho, it is illegal for employers to discriminate when seeking, obtaining or holding on to jobs. However, in New York and Nevada, protections only apply to interns and apprenticeships, respectively. Some cases have occurred where employers have demanded genetic information, but on the whole, this has not occurred too often, largely due to employers not knowing when and why they would need to ask for such tests to be conducted in the absence of symptoms being present in an employee. 

Will a genetic test affect my ability to get housing?

Discrimination in housing has a long history, especially for racialised groups and those with disabilities, for example. Genetic discrimination is a risk when property developers or lenders are motivated to select those perceived to have lower risk of disease and thus more able to pay back a mortgage as a result of low medical or care expenses, especially in countries like the US with private healthcare. 

However, genetic discrimination laws in the US do not cover housing, lending, land use. California is the only state to prohibit genetic discrimination in the context of housing, such as refusing to rent or sell an apartment to someone who is predisposed to a genetic form of Alzheimer’s disease. Massachusetts also has wider anti genetic discrimination laws that cover housing. Examples of genetic discrimination appear rare, though with examples of illegal discrimination by mortgage lenders who have used health information to assess peoples’ financial stability. 

In the UK, many mortgages are tied directly to life insurance. Currently, there is a voluntary agreement between Insurers and the government not to require DNA testing (see Will having a genetic test affect my insurance?). 

What can online genetic health tests tell me?

What can genetic ancestry tests tell me?

Should I buy online DNA tests for my family?

Can the police get my DNA from a commercial company?

If I buy a DNA test online, is my information private?

Categories
DNA, police and immigration

DNA, police and immigration: introduction

Blogs in this category will aim to answer questions such as:

When can the police take my DNA?

How can my DNA be used in evidence?

Can the police store my DNA records on a database?

Can I get my DNA records destroyed?

Can my DNA exonerate me?

Could I be wrongly convicted of a crime due to a DNA match?

Is my DNA stored securely?

Can I find out if my DNA is on a police database?

Can my DNA be collected at borders?

Can my DNA be used for immigration checks?

Can my DNA records be shared internationally?

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DNA basics

DNA basics: introduction

What is DNA?

DNA (deoxyribonucleic acid) is a chemical found inside living things, such as plant, animals and bacteria. Living things are made of cells where cells make up tissues and organs. The DNA chemical occurs as molecules inside each cell. Inside the cell, DNA is packaged into chromosomes. Each chromosome is basically a very long DNA molecule that is tightly compacted.  Each species has a different number of chromosomes, with humans having 23 pairs of chromosomes. The totality of DNA packaged into chromosomes is the genome. 

DNA itself is a very long molecule, made up of two-strands wound around each other, called a double-helix. Each strand is made up of a long string of units joined together. There are four different units in DNA, labelled with the letters A, T, G, and C, which stand for the identifying bases for each unit, adenine, thymine, guanine and cytosine. 

Previously, it was commonly thought by geneticists that all the information required to build an organism is stored in DNA, which is then passed down to the next generation. The reality is now understood to be far more complicated. DNA can no longer be considered the blueprint for life, but instead one of a list of ingredients needed to build an organism. Information is also stored in molecules that regulate a cell’s DNA, which in turn can be influenced by environmental factors and life experience. 

What is my genome?

Your genome is the totality of all your DNA that is packaged inside your cells. Most of your DNA is in the nucleus of your cells. The nucleus is a spherical compartment, which contains DNA in the form of chromosomes. A small amount of DNA is contained in other parts of the cell called mitochondria, which play a role in supplying chemical energy to the cell. Each species has a different genome and each individual’s genome is also slightly different. 

Your genome is passed down from one generation to the next during reproduction, and accounts for some of the resemblance between parents and their children, however it is not the sole carrier of information passed down the generations that is required to build an organism (see ‘What is DNA’ blog for further details). 

The genome contains within it certain segments of DNA that constitute genes (see ‘What is a gene?’ for details), as well as other regions that do not encode for genes, but instead play other roles such as regulating the behaviour, or activity of genes. Some DNA elements are used in criminal DNA sample analyses to identify a person based on small differences in sequences that can be used to distinguish people. For example, repetitive sequences called Short Tandem Repeats (STRs), exist in all people, but the number of repeats vary between individuals. Similarly, differences in individual DNA units (nucleotides) can also distinguish individuals. These individual nucleotide differences are called Single Nucleotide Polymorphisms (SNPs). SNPs are also investigated to make estimations of someone’s ancestry, as well as disease risk. However, as detailed in our ‘What can you tell from my DNA’ blog, such information is limited in its ability to make such inferences and predictions. 

What is a gene? 

A gene refers to a particular segment of DNA that is associated with a particular trait, for example a certain gene can be associated with conferring eye colour. Genes are commonly described as conferring such traits, by providing the information for the production of a particular protein that performs a specific function. Proteins are chemicals which perform different functions within organisms. In the case of eye colour, the protein produced would be a specific pigment. 

However, the original theory of genes has now been recognised as outdated and oversimplified. Genes are not the only determinants of traits, and not all the information to build an organism is kept within the gene sequence that is passed down from generation to generation. It is now understood that additional information, outside of a gene, is also required. For example, information that tells the body to produce the eye pigment only at a particular stage of a baby’s developmental stage, and in the correct eye cells, is not stored in the gene but in other chemicals that are also inherited. Certain information, determined by someone’s particular experience, such as exposure to pollutants, stress, or lack of food, can also have impacts on future generations, showing that inherited traits are not conferred solely by genes.

Further, the definition of a gene is becoming increasingly blurred by recent discoveries that they function in complex networks with other chemicals and genes. Moreover, it is now understood that one gene may have many functions; that it may combine with other genes to take on additional functions; and that these functions may vary depending on the environment, such as the gene’s role in a skin cell versus a brain cell. 

What can you tell from your DNA?

Some information can be inferred from your DNA. Each person’s DNA can be used to identify an individual, with this information used by law enforcement for example, in order to identify criminal suspects. 

DNA testing services for ancestry testing are also on the market, offering estimations on genetic origins that pertain to modern nation states or so-called ‘ethnic’ groups. However, such claims suffer various scientific pitfalls that make such claims controversial and scientifically unsubstantiated. Your DNA is compared to those that have been collected to be part of a “reference panel group” that consists of DNA taken from individuals across different geographical regions. Depending on the reference panel group used, your ethnicity estimates can vary, as seen when reference panel groups are updated, or when people use different testing companies with their own reference panels. This shows the limited accuracy of such testing methods on the market.

The limited accuracy of such ethnicity testing is due to various factors. For starters, there is no biological definition of ethnicity to associate particular genetic patterns to, and people are often mixtures of various ancestral populations. Taking the UK as an example, Germanic, French, Roman (including North African peoples such as Hadrian) and Scandinavian people settled in the UK such that a person from modern day England or Scotland, might have DNA from all those regions. Further, studies have shown that genetic diversity is greater within rather than between so-called ethnic groups, making claims of a genetic basis for ethnicity problematic. Borders are also human inventions which have continuously changed over time, and can hardly be associated with any potentially genetically defined group.  

In reality, while tests claim to make ‘ethnicity estimates’, this is a deceptive term. What they actually test, is if your DNA shares the same genetic patterns as other individuals from a particular region. 

Genetic testing for health predictions suffers similar biological pitfalls. To date, genetics has been a poor predictor of most diseases in most people. Although there are some important exceptions, most diseases are not predictable from people’s genes. This is because in most cases, multiple genes play only a small and complicated role in most diseases, or in their reaction to drugs. 

Can my DNA identify family members?

Half your DNA is inherited from your mother and half from your father. This means that DNA tests can be used to find out who you are related to, by looking at how much of your genome is shared with others.

There are various genetic tests that can be performed to identify family members. For example, small differences in DNA patterns that distinguish individuals from each other, called Single Nucleotide Polymorphisms (SNPs) (see “What is my genome?”), are usually similar between related individuals. As such, these patterns will indicate whether people are closely related or not. 

Criminal investigations sometimes compare a forensic DNA profile, taken from a sample obtained at a crime scene with family members who are already on the DNA database in order to track down a suspect. These forensic DNA profiles are based on repetitive sequences called short tandem repeats (STRs), rather than on SNPs. The number of repeats at a particular location on the genome varies between individuals so, if enough locations are used, forensic DNA profiles can distinguish between individuals. Because relatives share some of their DNA, family members can also be identified.

Testing of the Y chromosome, which is the male sex chromosome that is passed down exclusively from father to son, can be used to gain information on the male ancestral lineage. Repetitive sequences that are present only on the Y chromosome, called Short Tandem Repeats (STRs), exist in all people, but the number of repeats vary between individuals and remain similar between family lines, and can therefore be used to trace male lineages. 

Other tests can be performed to gain information on the female lineage by looking at mitochondrial DNA (see “What is my genome?”), which is a form of genetic material inherited from the mother in both men and women, allowing for identifying female lineages. 

Is my DNA unique?

Human DNA is almost identical between all individuals (estimated at 99.9 %). However, small differences in each individual mean that your DNA can be distinguished from other individuals and can be used to identify people as well as close relatives who will share similar DNA patterns. However, most differences are small, involving only a few DNA units being different between people. It is unlikely that your genome will have long stretches of DNA that another person lacks, for example. 

The small differences between individuals are often used for criminal investigations to match for example, a forensic DNA profile from a sample taken from a crime scene, to that of a suspect, or to a DNA profile on an existing database. 

Why is consent important?

Consent is important to protect against human rights abuses by the state or private companies. Without fully informed consent, there is the possibility that personal genetic information may be shared with third parties such as law enforcement, border control enforcement, or private companies who wish to profit from the data, even across countries and continents, without people being aware that this can happen.

Regulations are still under development with regard to genetic testing and some people are not aware of what can happen to their genetic information. For example, DNA information from ancestry testing companies can be given to law enforcement in certain circumstances. DNA given with consent for research purposes has also been used for the development of commercial products. In the case of health tests, such as nutrigenic tests, commercial companies may attempt to make unregulated or unproven health/disease claims based on your DNA, with the aim of selling products back to the customer, such as nutrient supplements. In many countries, the police and security services can take DNA from some people without consent, but the safeguards to prevent misuse vary widely in different countries. 

Such examples highlight the importance of consent being more than merely saying “yes”, but instead being a process that seeks to fully clarify and inform people on the purposes of the data collection, and with whom any data may be shared with at the time your DNA is given, or at some point in the future.